Miller Fisher variant of Guillain-Barre syndrome

A 70-year-old woman with long-term tobacco use presented with 2 weeks of bilateral ptosis and binocular horizontal diplopia

She denied weakness, difficulty swallowing, or breathing

On initial examination, she had a normal mental status, no pupillary abnormalities, normal visual acuity, and full visual fields

She had moderate exotropia, severe bilateral ptosis, impaired bilateral adduction and vertical ductions, and impaired convergence

Her abduction and vertical oculocephalic reflexes were intact

She had full strength and normal sensation and reflexes but had a slightly wide-based and unsteady gait

Over the subsequent weeks, she experienced worsening gait, falls, inattention, and short-term memory loss

Her brain magnetic resonance imaging (MRI) with contrast results were unremarkable

The test results for acetylcholine receptor antibodies and the muscle-specific kinase antibody were negative

Her electrodiagnostic test results with repetitive stimulation and single fiber electromyography were unremarkable and there was no evidence of neuropathy

The test results for thyrotropin, thiamine level, Lyme antibodies, rapid plasma reagin, and the serum ganglioside antibody panel were unremarkable

A cerebrospinal fluid (CSF) analysis revealed a nucleated cell count of 6/μL (to convert to ×109 liters, multiply by 0.001) with 88% lymphocytes (to convert to the proportion of 1.0, multiply by 0.01), a red blood cell count of 10/μL, a protein level of 0.087 g/dL (to convert to grams per liter, multiply by 10), and glucose level of 63 mg/dL (to convert to millimoles per liter, multiply by 0.0555)

Serum paraneoplastic antibody testing results were negative for anti-Hu, Ri, Yo, and voltage-gated potassium channel complex (VGKCC) antibodies, and the CSF had negative results for anti-VGKCC, voltage-gated calcium channel, Hu, Ri, Yo, and amphiphysin antibodies

A repeated brain MRI 3 weeks later revealed an interval development of T2-weighted fluid-attenuated inversion recovery hyperintensities in the right thalamus, inferior temporal gyrus, and hippocampus (Figure)

Repeated brain magnetic resonance imaging 3 weeks after the patient’s initial presentation: T2-weighted fluid-attenuated inversion recovery hyperintensities (arrowheads) in the right inferior temporal gyrus (A) and right thalamus (B)


Congenital pulmonary airway malformation

A pregnant woman in her late 30s had normal findings on anatomic ultrasonography at 19 weeks’ gestation

Follow-up ultrasonography at 32 weeks’ gestation identified fetal hydrops

The fetal ultrasonogram showed a large left-sided hydrothorax, mediastinal shift, and ascites

After ruling out infectious causes, an ultrasonography-guided thoracoamniotic shunt was placed successfully at 32 weeks’ gestation

Results of follow-up ultrasonography on postoperative day 3 showed improvement in the fetal hydrothorax and resolution of hydrops and identified a feeding vessel originating from the descending aorta supplying a lung mass (Figure 1A)

A, Feeding vessel (arrowhead) from descending aorta identified on ultrasonography at 32 weeks’ gestation

B, Feeding vessel (arrowhead) to lung mass (outlined) over left hemidiaphragm on computed tomography at age 9 months

Owing to premature rupture of membranes, the mother delivered at 33 weeks

The neonate showed no respiratory distress after birth, and the shunt was removed

On the day of birth, radiographic findings showed a left-sided pleural effusion

Ongoing pleural effusion caused respiratory distress, and on day 3 of life, a temporary thoracostomy tube was placed

During the following weeks, the thoracostomy tube output decreased, the tube was removed, and the patient was discharged home

At 9 months of age, follow-up computed tomography confirmed a lung mass with a feeding vessel (Figure 1B), and the patient returned for elective thoracoscopic resection


An adolescent girl presented with a 3-month history of a growing, painless mass in the right thigh

A magnetic resonance imaging (MRI) scan showed an inhomogeneous nodule in the subcutaneous layer with a largest diameter of approximately 5 cm

No enlarged lymph nodes were detectable in the groin

Results of a complete blood cell count and levels of alkaline phosphatase, lactic dehydrogenase, and C-reactive protein were unremarkable

An ultrasonography-guided core needle biopsy was performed, and histopathologic evaluation showed the aspects of a small round-cell tumor, which was confirmed to be a Ewing sarcoma by immunohistochemical and molecular analysis (with positivity for the EWS-FLI1 fusion gene [OMIM 133450])

The patient then underwent disease staging with computed tomography (CT) of the chest and whole-body fluorodeoxyglucose positron emission tomography (FDG-PET)

The CT findings were negative for secondary lesions

the FDG-PET scan demonstrated, as expected, high uptake in the right thigh (maximum standard uptake variable [SUVmax], 8.4) at the site of the subcutaneous tumor and at a second lesion in the left ankle joint (SUVmax, 12.0)

The patient reported vague pain around the left ankle but no functional limitations and no history of trauma at that site

A radiograph of the ankle did not show calcifications within the soft-tissue lesion

An MRI scan of the ankle showed a 1.5-cm soft tissue mass in the posterior recess of the ankle joint with a low to intermediate signal in T1- and T2-weighted sequences and moderate contrast enhancement throughout the lesion (Figure 1)

Magnetic resonance imaging fast spin echo of the left ankle showing the soft-tissue mass in the posterior recess

The sagittal T1-weighted image shows an isointense, bean-shaped mass (arrowhead) (1.5 × 0.7 cm) (A), whereas the sagittal T2-weighted image shows the isointense signal of the mass (arrowhead) (B)


An otherwise healthy woman in her 60s presented with a right neck and facial lesion that had been growing slowly for more than 20 years

She was a former smoker and had unilateral conductive hearing loss associated with the mass

On examination, a large, nonmobile, and firm tumor extended from the postauricular region to the parotid gland, scalp, and a portion of the neck

On otoscopy, the growth occluded view of the tympanic membrane

Computed tomographic imaging (Figure, A and B) demonstrated a mass emanating from the parapharyngeal space, measuring approximately 10 × 7.3 × 1.5 cm

There was no radiographic evidence of osseous extension or destruction

The patient underwent a staged procedure, including a radical resection of the scalp and neck mass, followed by a transcervical and transparotid approach to the parapharyngeal space

The tumor was noted to stretch the pes anserinus to 4 times its normal length and had to be resected off the internal carotid artery, as well as the fascia overlying the medial pterygoid muscle and the tympanomastoid suture

The patient recovered well with only temporary marginal mandibular weakness

Microscopy (Figure, C) demonstrated a well-circumscribed, paucicellular spindle cell neoplasm with abundant myxocollagenous matrix

The scattered tumor cells were spindled to stellate shaped and had the morphology of myofibroblasts

Rare vessels were identified, and the tumors focally infiltrated subcutaneous fat and skeletal muscle

A and B, Contrasted computed tomographic imaging demonstrating a mass approximately 10 × 7.3 × 1.5 cm that included the retroauricular, superficial, and deep parotid space, pterygopalatine fossa, and masticator spaces, with punctate and amorphous calcifications throughout the lesion

C, Histopathological findings with high-powered view of hematoxylin-eosin staining, revealing sparse spindle-shaped tumor cells in abundant myxocollagenous matrix (original magnification ×40)


Severe irritant contact dermatitis (chemical burn)

A healthy 8-month-old male infant was admitted for management of a rapidly progressive, painful anogenital ulcer

The lesion had developed acutely over 48 hours, starting as symmetric pink patches leading to pustules, erosions, and ulceration

Associated symptoms included generalized fatigue, but no fevers, chills, or other systemic symptoms

The child’s parents denied any new topical exposures or medications

The child was born via vaginal delivery at full term

Pregnancy was complicated by gestational diabetes

The child had no major medical issues and met all developmental milestones

There was no relevant family medical history

Broad-spectrum intravenous antibiotics were initiated on admission

Dermatology was consulted prior to scheduled debridement and skin grafting

Physical examination revealed a well-appearing infant with normal vital signs

Extending from the gluteal cleft to just medial to the scrotum, there was a symmetric, well-defined ulcer with a cribriform base, central necrosis, and rolled, pink-to-violaceous, undermined border (Figure, A)

Initial laboratory workup was significant for leukocytosis (22 000/mm3) and thrombocytosis (764 000/mm3)

Serum zinc and alkaline phosphatase were within normal limits

A punch biopsy of the edge of the ulcer was obtained and stained with hematoxylin-eosin (Figure, B and C)

Tissue cultures for anaerobic and/or aerobic, mycobacterial, and fungal organisms were all negative, though wound cultures grew Escherichia coli, Klebsiella oxytoca, and Enterococcus faecalis

A, Clinical photograph shows a symmetric, well-defined ulcer with a cribriform base, central necrosis, and rolled, pink-to-violaceous, undermined border extending from the gluteal cleft to just inferior and medial to the scrotum

B, Histopathology demonstrating an ulcer with surrounding mild epidermal hyperplasia and a neutrophil predominant perivascular and interstitial infiltrate

C, Histopathology demonstrating an ulcer with surrounding mild epidermal hyperplasia and a neutrophil predominant perivascular and interstitial infiltrate


A woman in her 50s with a 2-year history of disseminated dermatosis involving the trunk and limbs was seen in our dermatology department

The dermatosis was characterized by polymorphic erythematous macules and plaques with elevated and indurated borders without evanescence to pressure (Figure, A and B)

She was referred from another clinic with the presumptive diagnosis of urticarial vasculitis

Previous treatment included antihistamines and oral corticosteroids for several months without improvement

Results from complete blood cell count, erythrocyte sedimentation rate, and blood chemistry analyses were normal, as was a thyroid profile

A punch biopsy specimen from a trunk plaque was obtained, and histopathological analysis was performed (Figure, C and D)

A, Polymorphic erythematous macules and plaques with elevated and indurated borders without in vitro pressure evanescence were noticed during consultation on patient’s back

B, Polymorphic erythematous macules and plaques with elevated and indurated borders without in vitro pressure evanescence on the trunk and abdomen were present

C, Histopathological analysis revealed a chronic dermic granulomatous process, as well as (D) a chronic dermic nonencapsulated granulomatous infiltrate with a perineural distribution formed by mature epitheloid cells and encapsulated by lymphocytes


Primary cutaneous anaplastic large cell lymphoma

Cutaneous blastic plasmacytoid dendritic cell neoplasm

Transformed mycosis fungoides and Sézary syndrome

A white man in his 50s with a medical history of myelodysplastic syndrome (MDS) refractory anemia with excess blasts, type 2 (RAEB-2) or MDS with excess blasts, type 2 (MDS-EB-2) RAEB-2 reported a 2-month history of nonpruritic infiltrative skin lesions on the left upper chest, which disseminated to the entire chest, back, and right facial areas (Figure, A)

The patient was initially diagnosed with MDS 3 years ago and treated with azacitidine followed by CLAG (cladribine, cytarabine, granulocyte-colony stimulating factor)

Posttreatment bone marrow biopsy findings at that time showed no evidence of disease

His physical examination on this presentation showed multiple dark brown cutaneous papules measuring at 3.0 to 5.0 cm (Figure, A), but the rest of the examination results were negative for hepatosplenomegaly or lymphadenopathy

Complete blood cell count showed a white blood cell count of 3.3 × 109/L with absolute neutrophil count of 1.0 × 109/L, Hb 12.7g/dL, platelet counts 118 × 109/L and differential counts showed no evidence of circulating blasts

In addition, results of laboratory workup including peripheral blood culture, methicillin-resistant Staphylococcus aureus (MRSA) swab, human immunodeficiency virus test, and flow cytometry performed on his peripheral blood were all negative

Pathologic sampling from the skin lesion showed the presence of monomorphous small to medium cells extending through the dermis and into the subcutaneous fat (Figure, B)

Immunohistochemical staining demonstrated CD4-, CD33-, CD43-, CD56-, CD123-, and TCL1-positive neoplastic cells with Ki-67 of 85%, but staining results for TdT, MUM1, CD3, CD20, Bcl-6, CyclinD1, and CD8 were negative (Figure, C)

Results of bone marrow biopsy showed normocellular marrow maturing trilineage hematopoiesis with no increase of blasts or other abnormal populations

Cytogenetics results were abnormal, showing del(20)(q11.2q13.3)[8]/46,XY[12]

A, Skin image showing a single, brownish nodule and adjacent scar from prior biopsy

B, A section of cutaneous blastic plasmacytoid dendritic cell neoplasm with subepidermic confluent atypical cellular infiltrate composed of medium sized, round to oval, or elongated immature precursors with finely granular to open chromatin, inconspicuous to prominent nucleoli and a small amount of cytoplasm (hematoxylin-eosin stain, original magnification ×600)

C, CD56 (immunoperoxidase stain, original magnification ×600)


A child younger than 10 years presented with an 8-week history of bilateral cervical lymphadenopathy unresponsive to a 10-day course of Augmentin (GlaxoSmithKline)

The patient’s parents denied any associated fevers, chills, night sweats, sore throat, abdominal pain, or weight changes

Physical examination showed bilateral, mobile, nontender cervical lymphadenopathy without erythema or swelling

There was no noticeable thyromegaly or nodules

Laboratory testing was significant for an elevated erythrocyte sedimentation rate (37 mmol/h)

Ultrasonography demonstrated cervical lymphadenopathy bilaterally with the largest node measuring 3.8 cm in maximum dimension

Lymph node needle core biopsy demonstrated increased histiocytes and numerous plasma cells on tissue section (Figure, A)

Scattered neutrophils and rare giant cells were also present

Findings of Grocott methenamine silver, acid-fast, and Warthin-Starry stains were negative

The CD-68 immunostain showed numerous histiocytes

The specimen stained positive for CD-30 and S-100 immunostains showing emperipolesis (Figure, B and C)

Lymphoid markers by flow cytometry showed a polyclonal mixed B-cell and T-cell population

Lymph node needle core biopsy specimens from the patient

A, Evident are increased histiocytes and numerous plasma cells (original magnification × 10)

B, Numerous histiocytes with emperipolesis (original magnification × 40)

C, Several histiocytes with emperipolesis under oil immersion (original magnification × 100)


A man in his 30s presented with a slow-growing mass in the upper lip that had developed over several years

He had no history of underlying medical diseases, such as hypertension, diabetes, hepatitis, and tuberculosis

On physical examination, a whitish, firm, painless, nodular mass on the superficial layer of the left upper lip was observed (Figure, A)

Given the possibility of a tumorous lesion, complete excision was planned under local anesthesia

In surgery, the 1.5 × 1.2 cm, whitish, firm, nodular, and well-encapsulated mass was excised completely without rupture of the capsule from the surrounding mucosa

On histopathologic examination, an encapsulated salivary gland tumor with epithelial and myoepithelial cells, ductlike structures, and mixed stroma was observed (Figure, B)

One month after surgery, the surgical wound on the left upper lip was clean and well healed

One year later, there had been no recurrence, and the patient had no symptoms at the left upper lip

B, Histopathologic image (hematoxylin-eosin, original magnification ×10) showing areas of ductal epithelial components with myxoid stroma


A 40-year-old healthy woman presented with an 8-year history of a slowly growing erythematous plaque on the left lower eyelid, with occasional discomfort

Physical examination revealed a single erythematous scaling plaque involving the left lower eyelid, including its border

Eyelashes were totally absent (Figure 1A)

No other lesions were found after complete physical examination

Dermoscopy showed an erythematous background, telangiectatic vessels, whitish structureless areas, and whitish scales (Figure 1B)

A 4-mm punch biopsy specimen was obtained (Figure 1C)

A, Erythematous scaling plaque involving the left lower eyelid

B, Dermoscopy shows erythematous background, telangiectatic vessels, structureless whitish areas, and white scales

C, Histopathological analysis (hematoxylin-eosin)


A man in his late 20s presented with mildly itchy, erythematous plaques of 3 months’ duration on both legs

The lesions started to appear on the left pretibial region as small papules, which gradually increased in size and coalesced to form bigger plaques

No history of local trauma, prolonged standing, and occupational exposure to mineral dust or recent drug intake was recollected

On examination, large, ill-defined, erythematous plaques were present on the pretibial areas extending onto the lateral aspect of both legs

The plaques were surmounted by multiple, discrete atrophic scars

The periphery of the plaques showed increased vascularity in the form of telangiectasias and venous prominences, along with atrophy of the overlying skin (Figure, A)

There were no lesions elsewhere on the body

A skin biopsy sample was obtained from the plaque and sent for histopathological examination (Figure, B and C)

A, Clinical photograph on presentation showing ill-defined, erythematous plaques surmounted by multiple atrophic scars

The periphery of the plaques shows telangiectasia

B, Skin biopsy showing unremarkable epidermis and multiple epithelioid cell granulomas in the entire dermis

C, Compact, noncaseating, epithelioid cell granulomas with multiple Langhans giant cells

D, Photograph after 6 weeks of treatment showing considerable decrease in erythema and induration


A miner in his early 40s presented with a 6-month history of asymptomatic, erythematous nodules on his face, his chin, the anterior portion of his neck, and the anterior thorax

Approximately 15 years earlier, he had sustained injuries from an accidental land mine explosion that had lacerated his face, neck, and thorax in several places

The wounds apparently healed without difficulty, leaving only scars of expected severity

Approximately 6 months before presentation, the patient began to notice an increase in the size of these lesions

Physical examination showed multiple firm, erythematous, nontender papules, nodules, and small plaques on his face, his chin, the anterior portion of his neck, and the anterior thorax (Figure 1)

Multiple firm, erythematous, nontender nodules and small plaques on the patient’s face


Jejunal injury with intraluminal contrast extravasation

Rupture of a peripancreatic pseudoaneurysm

A man in his 60s with a known history of a large cyst on the right kidney sustained blunt trauma in a skiing crash

Computed tomography (CT) showed a right-sided grade IV renal injury involving his known renal cyst with active arterial extravasation (Figure, A)

The patient underwent selective angioembolization of the renal laceration

A, Abdominal computed tomography (CT) with contrast demonstrating grade IV laceration of the right kidney and active extravasation

B, Abdominal CT obtained on day 2 of hospitalization showing large right-sided retroperitoneal hematoma and grade IV renal laceration displacing the patient’s abdominal viscera to the left, with contrast-filled structure medial to the liver

In the 24 hours after embolization, the patient required 2 U of red blood cells via transfusion for anemia

On examination, the patient reported moderate pain in the abdomen and right side and demonstrated a distended abdomen in the absence of any peritoneal signs

Contrast-enhanced CT of the abdomen and pelvis was performed to assess for a source of continued bleeding (Figure, B)


A woman in her 50s with biopsy-proven scalp lichen planopilaris (LPP) presented with an increasing number of slightly pruritic facial papules that coincided with the start of her hair loss condition (Figure, A)

She denied a history of severe acne or other inflammatory skin disorders

The patient had no health problems and only had a distant medical history of an appendectomy and an oophorectomy

The only medication she was taking was hydroxychloroquine 200 mg twice daily that was initiated as treatment of her LPP and did not improve the appearance or symptoms of her facial papules

On physical examination, she had numerous 1-mm skin-colored grouped monomorphic noninflammatory papules on the bilateral temples, the bilateral cheeks, and the chin

A 3-mm punch biopsy specimen was obtained for histopathologic examination of a representative lesion on the right chin (Figure, B and C)

A, Clinical photograph shows numerous grouped 1-mm skin-colored monomorphic noninflammatory papules on the left cheek and chin

B and C, Histology of a 3-mm punch biopsy specimen of a lesion on the right chin using a hematoxylin-eosin stain


Linear hypertrophic herpes simplex virus infection

A woman in her 50s with a medical history of hypertension and depression was evaluated by the inpatient dermatology consult service for a 1.5-year history of painful intertriginous wounds

She was previously diagnosed with hidradenitis suppurativa and treated with surgical excision and split-thickness skin grafting of the genitocrural folds with graft failure

Over the past 1.5 years, she had been admitted to the hospital on multiple occasions for cellulitis around the wounds, which responded to intravenous antibiotics, and she had received a diverting sigmoid colostomy and indwelling urinary catheter to decrease wound contamination

Just prior to presentation, she received adalimumab for 3 months without clinical improvement

On physical examination there were linear moist, eroded, exophytic, condyloma-like plaques of the bilateral submammary folds (Figure, A), intergluteal cleft, and under the abdominal apron

There were ulcers of the bilateral genitocrural folds, as well as vulvar edema (Figure, B)

The lips, oropharynx, and ostomy were unremarkable

A wedge biopsy specimen of a submammary plaque was obtained, and histopathology was performed (Figure, C and D)

A, Clinical photograph shows a submammary representative linear condyloma-like ulcerated plaque, as well as secondary irritant contact dermatitis from application of topical medications

Similar plaques were present in the bilateral submammary fold, under the abdominal apron and in the intergluteal cleft

B, Clinical photograph of linear ulcers of the genitocrural folds, vulvar edema, and an indwelling urinary catheter

C, Hematoxylin-eosin stain of a biopsy specimen from the submammary plaque

D, High-power image from the same specimen


Multisystem Langerhans cell histiocytosis

A 4-year-old boy presented to our department of dermatology with a 3-year history of nonhealing crusted scalp lesions

He had previously been treated with various topical glucocorticosteroids and antibiotics without improvement

The physical examination revealed multiple disseminated erythematous papules, petechial hemorrhages, and yellowish crusts on the scalp (Figure, A)

The remaining skin and mucosal surfaces, as well as neck, axillary, and inguinal lymph nodes, were unremarkable

The patient did not show any other obvious abnormalities, but his mother reported occasional otitis media

The family history was negative for skin disease

Routine blood examinations revealed no pathological findings

A whole-body magnetic resonance imaging (MRI) scan showed 2 osteolytic lesions on the right frontoparietal skull (Figure, B)

A punch biopsy specimen of an erythematous papule on the scalp was obtained and stained with hematoxylin-eosin for histopathological analysis (Figure, C)

In addition, immunohistochemical stainings were performed (Figure, D)

A, Clinical photograph shows multiple disseminated erythematous papules, petechial hemorrhages and yellowish crusts on the scalp

B, Contrast-enhanced T1-weighted axial magnetic resonance image shows osteolytic lesions in the frontotemporal skull

C, Histopathological analysis of a punch biopsy of the scalp demonstrates a subepidermal infiltrate consisting of large cells with kidney-shaped nuclei, solitary lymphocytes, and eosinophilic granulocytes

D, The infiltrate stained positively for CD1A


A healthy adolescent girl presented with a prolonged dermatitis of both feet characterized by pruritus and accompanying desquamation (Figure 1)

Physical examination revealed well-demarcated desquamative patches with scales on both distal feet, showing a sandal appearance

No local heat, swelling, or discharge from the skin lesions was noted

The patient’s medical history was otherwise unremarkable and she had no known history of atopic dermatitis

A fungal smear skin test with potassium hydroxide preparation was performed on the lesion, which showed negative findings

Well-defined hyperkeratotic desquamation on both feet, representing a sandal appearance


A man in his 30s presented with abdominal pain associated with unintentional weight loss for 6 months

The patient had a history of hyperlipidemia

Results of examination revealed a palpable mass of about 15 cm in the left paraumbilical region

The patient had a normal right testis but a missing left testis

Results of a computed tomography scan of the thorax, abdomen, and pelvis revealed large intraperitoneal and retroperitoneal masses

The intraperitoneal heterogenous mass was 20 × 15 × 11 cm, with linear calcifications (Figure 1)

There was a right moderate hydronephrosis

The retroperitoneal mass was homogeneous, with associated lymphadenopathy encircling the aorta, inferior mesenteric artery, and both renal arteries

A large left supraclavicular lymph node and left inguinal lymph node were also detected

There was no metastasis identified elsewhere

Serum lactate dehydrogenase was elevated at 1358 U/L (to convert to microkatals per liter, multiply by 0.0167), β human chorionic gonadotrophin was elevated at 1485 mIU/mL (to convert to international units per liter, multiply by 1.0), and α fetoprotein levels were normal

A computed tomography scan of the thorax, abdomen, and pelvis showing large intraperitoneal and retroperitoneal masses


A 48-year-old man was admitted to our emergency department 12 hours after a bicycle accident with abdominal pain, nausea, and vomiting

He described abdominal trauma caused by the bicycle handlebar

The patient reported undergoing an appendectomy at age 23 years and having ulcerative colitis since he was aged 30 years

He had received treatment (mesalazine and corticosteroids) for inflammatory bowel disease that had been discontinued

Physical examination revealed paraumbilical ecchymosis (Figure 1A), general abdominal tenderness, and distension

Body temperature, blood pressure, and heart and respiratory rates were normal

Laboratory test findings did not show abnormalities except for the leukocyte count (12 300 cells/μL [to convert to ×109/L, multiply by 0.001])

hemoglobin and hematocrit levels were within the reference ranges

An abdominal computed tomographic (CT) scan, performed immediately, revealed a pneumoperitoneum and free fluid in the lower quadrants of the abdomen (Figure 1B)

B, Abdominal computed tomography (CT) scan: coronal cut showing free fluid (white arrowhead) and pneumoperitoneum (red arrowheads)


A man in his 60s presented with a 1-year history of a mild, dry cough

He was otherwise asymptomatic and had no physical limitations

He had never smoked, and results of his physical examination were normal

Results of complete blood cell counts, basic metabolic panel, and liver function tests were all within normal limits

A chest radiograph revealed a 10 × 9-cm lobulated left lower lobe mass

Examination of a biopsy specimen showed a primary adenocarcinoma with an immunohistochemical profile of CDX2 positive, CK20 positive, TTF-1 negative, and napsin A negative

His EGFR (OMIM 131550), ALK (OMIM 105590), and ROS1 (OMIM 165020) genes were wild type, and results of testing for programmed cell death protein 1 (PD-1) and programmed death ligand 1 (PD-L1) were 0%

Results of upper gastrointestinal tract endoscopy and colonoscopy did not reveal any evidence of a primary malignant neoplasm

Positron emission tomography showed no evidence of mediastinal lymphadenopathy or extrathoracic disease

Given the patient’s excellent performance status, he underwent a mediastinoscopy with left lower lobe lobectomy

Results of postoperative pathologic testing showed a 13-cm adenocarcinoma with similar immunohistochemical markers as in the prior biopsy specimen

Surgical margins were negative for involvement, with no large vessel or perineural invasion seen

Five sampled lymph nodes were negative for involvement

Repeat pathologic interpretation was performed (Figure)

Initial pathologic testing of a left lower lobe biopsy specimen (hematoxylin-eosin stain, original magnification ×100)


A woman in her 60s presented with a 3-month history of right-sided sinus pressure progressing to dental pain

She was prescribed antibiotics and steroids by her family physician, which initially provided intermittent, symptomatic improvement

however, she ultimately experienced a progressive decrease in tactile sensation on her face, anosmia, and changes in her right peripheral vision

She had a remote 2 pack-year smoking history

Sinus computed tomography (CT) and neck magnetic resonance imaging (MRI) revealed a large expansile mass arising from the right side of the skull base and nasopharynx with extension into the pterygopalatine fossa, masticator, parapharyngeal, retropharyngeal, and carotid spaces

In addition, imaging showed involvement of the right posterior orbit with erosion of the posterior maxillary sinus wall, anterior and middle cranial fossa with erosion through the cribriform plate, and cavernous sinus

Physical examination revealed slight right-sided facial fullness, grossly intact extraocular motion, decreased vision in the right lateral field, and palpable bilateral level 2 neck lymph nodes

Flexible laryngoscopy revealed a right-sided lobulated mass involving the medial middle turbinate, posterior septum, and nasal floor, as well as the posterior aspect of the maxillary sinus extending superiorly to the nasopharynx and skull base posteriorly

The mass extended into the left superior nasopharynx and superior septum

In-office biopsy specimens were obtained and revealed a primitive small round cell tumor with the following immunohistochemical (IHC) staining profile: diffusely positive for desmin, myogenin, and CD56

focally positive for low-molecular-weight kininogen (LMWCK), p63, and S-100

and negative for AE1/AE3, CK 5/6, CK7, CK20, p40, chromogranin, SOX10, HMB45, CD99, and CD20 (Figure 1)

A, Nests of primitive small round blue cells surrounded by fibrovascular septa


A man in his 60s with a history of chronic obstructive pulmonary disease (COPD) and dyspnea presented with right lower quadrant abdominal pain

A noncontrast computed tomographic (CT) scan of the abdomen demonstrated splenomegaly, ascites, and a retroperitoneal mass posterior to the pancreatic head

Fine-needle aspiration from the retroperitoneal mass and ascitic fluid revealed no malignant cells

The patient subsequently developed a left-sided lateral chest wall hematoma, and, in retrospect, it was thought that the retroperitoneal mass was actually a hematoma because multiple follow-up studies demonstrated the mass steadily decreasing in size

Echocardiography showed right atrial and ventricular dilatation and increased thickness of the interventricular septum

Laboratory tests showed elevated results for serum-free λ light chain and proteinuria levels and altered liver function tests but a normal coagulation profile

Routine surveillance noncontrast CT imaging of the neck demonstrated a submucosal soft-tissue mass containing few punctate calcifications centered in the epiglottis with clinically significant narrowing of the oropharyngeal and supraglottic laryngeal airways by the enlarged epiglottis (Figure)

Computed tomographic images show a soft-tissue mass containing punctate calcifications centered on the epiglottis


A woman in her 40s presented with right pulsatile tinnitus

She reported constant pulsatile tinnitus with a whooshing quality for 4 years

Factors exacerbating her symptoms included holding her breath and turning her head to the left

She reported that compression of her right neck and turning her head to the right decreased the loudness of the tinnitus

She had not experienced hypertension, vertigo, sleep apnea, hyperthyroidism, hearing loss, head trauma, history of ear infections, otorrhea, rhinorrhea, ear surgery, or family history of ear problems

The external auditory canals were clear bilaterally

Tympanic membranes were intact and mobile bilaterally

There was no evidence of any vascular masses in the middle ear space

Results from testing with tuning forks were normal

Toynbee stethoscope revealed a bruit in the right ear that could be stopped with gentle compression of the right side of the neck

An audiogram showed hearing within normal limits with slight air-bone gaps present at 250, 1000, and 3000 Hz on the right and within normal limits on the left

Speech reception threshold on the right was 10 dB with a word recognition score of 100% bilaterally

The tympanogram result revealed type A bilaterally, and acoustic reflexes were all present

A computed tomographic (CT) temporal bone scan was completed (Figure 1)

Computed tomographic images of the right temporal bone


Thrombophlebitis of external jugular vein

Perineural spread of cutaneous squamous cell carcinoma

A man in his 60s presented to a tertiary care center after several months of having right-sided lateral neck pain

He described the pain as “electric” and “stabbing

” He reported no numbness of the region and had not experienced any other symptoms, including new neck masses

His medical history was significant for obstructive sleep apnea, gastroesophageal reflux disease, a right ear skin cancer excised by a dermatologist, and coronary artery disease with angina on stress test

His physical examination revealed a well-healed excision site of the right ear without new skin lesions

He had full strength of the shoulder and no numbness of the right ear or cheek

Palpation of the lateral neck demonstrated a mass running along the lateral border of the sternocleidomastoid (SCM) muscle

Magnetic resonance imaging (MRI) showed an elongated enhancing tubular structure along the lateral surface of the right SCM muscle (Figure 1)

A and B, Anterior to posterior coronal fat-saturated T1-weighted postcontrast magnetic resonance imaging (MRI) with an enhancing tubular mass of the right side of the neck (yellow arrowhead) that extends posterior and deep to sternocleidomastoid (SCM) (blue arrowheads)

C, Axial T1-weighted postcontrast MRI with an enhancing tubular mass (blue arrowheads) that extends posterior and deep to the SCM (blue arrowheads) (white arrowhead indicates external jugular vein)


Cellulitis and abscess associated with neonatal group B streptococcal infection

A neonate in her second week of life was brought to our hospital for evaluation of a scalp lesion initially thought to be an open abscess

She was born full term to a primigravid mother, who had an uncomplicated pregnancy

At parturition, the baby presented in occiput posterior position and remained partly crowned for more than 24 hours of maternal labor

Finally, due to failure to progress, the baby was delivered by urgent cesarean delivery

Birth weight was 3.13 kg (15th percentile), head circumference was 31 cm (<1 percentile), and Apgar score was 9 of 9. The baby’s head had a markedly elongate vertex, which the neonatal intensive care unit team diagnosed as cephalohematoma

On day 5 of life, her serum total bilirubin and conjugated bilirubin were 20.5 mg/dL (>95 percentile) and 0.3 mg/dL (to convert to micromoles per liter, multiply by 17.104), respectively

The girl was hospitalized for 1 day of phototherapy before being discharged home weighing 2.95 kg (−5.75%)

She was admitted to our hospital for evaluation of the scalp

Wound culture samples were sent for analysis, and she was given empirical intravenous clindamycin hydrochloride

On examination, the baby was alert and healthy appearing, although her sclerae were icteric

The vertex of her scalp was uniformly boggy, soft, and edematous, extending beyond suture lines, consistent with a diagnosis of caput succedaneum

On the right occiput, there was a mat of hair and thick serosanguineous crust adhering to the scalp (Figure 1A)

Beneath the mat and extending laterally in both directions was a deep, 8 × 1-cm, trenchlike ulcer with no drainage (Figure 1B)

A, Serosanguineous crust adhering to occipital scalp of a neonate

Prior to removing this crust it was being treated as an open ulcer

B, Trenchlike linear ulcer revealed after removal of the crust

It was 8 × 1 cm in size, was nontender to palpation, and did not appear to be infected


A man in his 20s with panhypopituitarism, septo-optic dysplasia, developmental delay, duodenal stricture, and a history of pancreatitis presented with a painful eruption on his bilateral lower legs

The patient was well until 2 days prior to hospitalization when he developed bilateral lower extremity edema

The day prior to admission, he developed painful pink lesions on both legs

He had not applied any topical medications to his legs or had recent exposure to hot tubs or fish tanks at the home

He had a history of keratosis pilaris on the lower legs and was otherwise well with no fevers, recent upper respiratory infections, abdominal pain, vomiting, or diarrhea

Physical examination showed a man in no apparent distress

On the bilateral anterior legs were scattered tender, pink to purple nodules, and plaques (Figure, A)

There was also a background of pinpoint folliculocentric papules on leg and thighs consistent with keratosis pilaris

There was 2+ pitting edema of the lower extremities

A punch biopsy specimen was obtained for histopathology and microbiology cultures (Figure, B-D)

Routine complete blood cell count and complete metabolic panel had results within normal limits

A, Clinical photograph shows scattered pink to purple nodules and plaques on the bilateral lower extremities

B, C, and D, Histopathologic images of a biopsy specimen (hematoxylin-eosin)

B, Subcutaneous tissue with superficial and deep, dermal and perivascular inflammation, fibrosis, and fat necrosis

D, Dense neutrophilic infiltration of subcutaneous fat associated with fat necrosis and deposition of granular basophilic material (arrowhead)


Folliculocentric lichen sclerosus et atrophicus

Eruptive tumors of the follicular infundibulum

A woman in her 60s presented with numerous whitish papules on the back of more than 10 years’ duration

The lesions previously resolved with topical corticosteroids but flared soon after treatment discontinuation

Some papules became pruritic and extended to the waist and anterior trunk in the past month

No family history of similar lesions was recorded

Physical examination revealed multiple hypopigmented, flat-topped papules on the back, waist, and inframammary area without genital involvement (Figure, A)

Most lesions were folliculocentric under close inspection

Dermoscopy revealed central keratin plugs and some foci of structureless, whitish, and homogenous areas with surrounding erythema (Figure, B)

The results of laboratory tests for antinuclear antibody and hyperglobulinemia were negative

A biopsy specimen was obtained from the back for histologic analysis (Figure, C)

A, Multiple hypopigmented, atrophic, keratotic, and folliculocentric papules are seen on the trunk

B, Dermascopic findings included 2 foci of central keratin plugs and another ill-defined, whitish, and homogenous area with surrounding erythema

C, Histopathologic examination of a biopsy specimen (hematoxylin-eosin, original magnification ×100)


Goldenhar syndrome (oculoauriculovertebral spectrum)

An 8-month-old boy born full term presented to dermatology for evaluation of a bump on his neck that was present from birth (Figure)

The parent noted that clear fluid drained from this bump when the patient ate

In addition, the parent reported that, at birth, the patient failed multiple hearing tests and that he had small kidneys

Upon physical examination, the patient was noted to have a preauricular sinus and ear pit as well as a skin-colored papule on the antitragus of the right ear

He also had a pedunculated, skin-colored papule on the right lateral neck

Photograph of infant’s lateral neck depicting skin-colored papule with clear drainage


Anaphylactic shock secondary to ruptured echinococcal cyst

Hemorrhagic shock secondary to perforated hemorrhagic calculous cholecystitis

Hemorrhagic shock secondary to spontaneous intra-abdominal hemorrhage

Septic shock secondary to perforated cholecystitis

A 78-year-old man with a history of deep vein thrombosis and pulmonary embolism who had been taking warfarin for the last 20 years presented with 1 day of severe abdominal pain, which began after eating dinner

The pain had no associated nausea, vomiting, or obstipation

On examination, he was afebrile and had a normal heart rate but was notably hypotensive

He was given 2 L of crystalloid, and his blood pressure responded appropriately

His physical examination showed an abdomen that was soft but diffusely tender without rebound or guarding

Blood testing revealed an elevated creatinine level of 1.7 mg/dL (to convert to micromoles per liter, multiply by 88.4), an elevated lactate level of 29.7 mg/dL (to convert to micromoles per liter, multiply by 0.111), an international normalized ratio of 4.6, a lowered hemoglobin level of 10.7 g/dL (to convert to grams per liter, multiply by 10), and a lowered hematocrit level of 27.2%

Given his coagulopathy, low hematocrit level, and abdominal pain, a computed tomography angiogram was performed to rule out bleeding (Figure 1)

A, Axial cross-section computed tomography without contrast of the abdomen and pelvis revealed gallstones in the neck of the gallbladder, high-density material within the lumen, and free intraperitoneal fluid

B, Axial cross-section computed tomography with intravenous contrast was significant for a blush of contrast within the lumen of the gallbladder and surrounding hyperemia of the liver at the gallbladder fossa


A 71-year-old man with a history of coronary artery bypass graft using the left internal mammary artery (LIMA) to the left anterior descending (LAD) in 1997 presented with frequent ventricular tachycardia on routine pacemaker interrogation

He reported dyspnea on exertion and left leg claudication at 23 m

At rest, his blood pressure was 146/65 mm Hg measured on the right arm and 85/50 mm Hg on the left arm

Physical examination was notable for a diminished left radial pulse

In 2014, he experienced angina that resolved following placement of a drug-eluting stent in his LAD

Coronary angiography via the left femoral artery is displayed in the Figure


Reactive lymphomatoid reaction secondary to drugs

A woman in her 20s previously prescribed and currently taking valproic acid and phenytoin for epilepsy presented to the clinic with a 2-month history of gradually worsening pruritic plaques that initially involved the scalp, face, and neck, and later affected the anterior and posterior chest wall, abdomen, upper arms, and thighs

she also had nodules over the nose and cheeks (Figure 1A)

Clinical photographs show (A) nodules on the head and neck on presentation and (B) nodules of of increasing thickness after 6 months

It was thought that she developed exfoliative dermatitis secondary to valproic acid and phenytoin

Medications were switched to levetiracetam, and a tapering dose of steroid was prescribed

Two months later, she developed diffuse urticarial lesions of varying sizes over the old plaques

These lesions were well-defined with demarcated borders and were minimally pruritic at the time

Given that her condition worsened despite changing her medication, the lesions were biopsied and analyzed, and the results were inconclusive, demonstrating atypical lymphoid infiltrate

The T cell receptor γ gene (TRG) rearrangement analysis by polymerase chain reaction (PCR) was negative

The plaques and nodules worsened over a 6-month period, becoming more numerous and increasing in thickness, especially on the face, and early leonine facies developed (Figure 1B)

The results from analysis of a second biopsy specimen showed dense band-like lymphoid infiltrate in the superficial dermis with mild epidermotropism

As her condition continued to worsen, a third biopsy specimen was obtained, and the result was consistent with the suspected diagnosis


An otherwise healthy 3-year-old boy presented with symptoms of sleep-disordered breathing

He had no reported respiratory issues at birth and no feeding difficulties

His symptoms included gasping and apneic episodes at night, as well as nighttime nasal congestion

He had been evaluated by an outside otolaryngologist, who had scheduled an adenoidectomy

Intraoperatively, he was found to have a nasopharyngeal mass, and thus surgery was aborted

Nasal endoscopy in clinic revealed a firm, mobile mass in the nasopharynx

Magnetic resonance imaging of the brain revealed a 21 × 14 × 18-mm irregular, but well-defined, heterogeneously enhancing mass in the left nasopharynx with increased perfusion (Figure, A)

Given the vascularity of the tumor, the boy underwent preoperative embolization with interventional radiology

He was subsequently taken to the operating room, where endoscopic resection of the mass and division of the pedicle were performed without complication (Figure, B)

Final pathologic results demonstrated keratinizing squamous cysts and collections of ductal structures set within a myxoid stroma, with small nests of primitive mesenchyme (Figure, C and D)


A man in his 50s presented for an emergency examination with a hard swelling of the left inner cheek

He stated that he had recently bitten his cheek and had since experienced increasing spontaneous pain and swelling

There was no obvious swelling extraorally

Oral examination revealed an erythematous, 15 × 10-mm lesion of the buccal mucosa, adjacent to the maxillary first molar

The lesion was hard and produced a small amount of bleeding with palpation (Figure 1)


A woman in her 30s with a history of bruxism and long-term use of a bite guard presented with pain centering on left submandibular area for 2 years

She was initially prescribed a muscle relaxant without notable improvement

Physical examination revealed a mild firmness in the left submandibular area

The mucosa of the oral cavity and floor of mouth was normal

Cranial nerve function, including tongue mobility and sensation, was also normal

Contrast-enhanced computed tomography (CT) demonstrated a 1.7 × 1.5 × 1.4-cm mass, adjacent to the left submandibular gland

Scattered, nonenlarged lymph nodes were observed (Figure, A)

An ultrasonography-guided fine needle aspiration biopsy was nondiagnostic owing to an inability to obtain sufficient tissue

The patient underwent surgical exploration with left submandibular gland excision and resection of the left submandibular mass (Figure, B)

Histopathologic findings showed spindle cell neoplasm with morphologic features and no malignant neoplasm identified (Figure, C)

Results from immunohistochemical analysis were positive for S100 (Figure, D) and negative for smooth muscle actin, CD34, and pankeratin

A, Contrast-enhanced computed tomographic (CT) image

B, Submandibular mass after removing the left submandibular gland

C, Hematoxylin-eosin–stained frozen section of the mass

D, Positive S-100 immunohistochemical stain


A male smoker in his 60s presented to the dermatology department with a right supraclavicular cutaneous mass that had persisted for 2 years (Figure, A)

This mass underwent progressive growth during the first year but subsequently stabilized

Despite causing occasional pruritus, the lesion was otherwise asymptomatic

A shave biopsy specimen revealed islands of large epithelioid cells with increased mitotic index surrounded by a dense lymphocytic infiltrate (Figure, B and C)

The tumor cells expressed p16 (Figure, D) and epithelial membrane antigen (EMA), p63, and CK903, and were negative for prostate-specific antigen, CDX2, thyroid transcription factor 1, S-100, chromogranin, synaptophysin, and CD56. In situ hybridization for Epstein-Barr virus (EBV) was negative

Otolaryngology referral was sought to rule out a head or neck primary neoplasm

With the exception of the cutaneous neoplasm, the findings from the otolaryngologic examination were unremarkable

A screening chest computed tomographic (CT) image showed multiple right lung nodules, the largest of which measured 2.4 cm in diameter

A biopsy of this pulmonary nodule showed a well-differentiated adenocarcinoma with lepidic pattern, and further workup revealed an intestinal tumor as the primary source

Positron emission tomography and CT imaging demonstrated a mildly fludeoxyglucose F 18–avid superficial supraclavicular soft-tissue mass but no primary head or neck malignant neoplasm or local nodal metastases

A wide local excision of the cutaneous mass and a right level Vb neck dissection were performed

The final pathology report showed residual neoplasm with negative margins and 5 negative lymph nodes

A, 6.5 × 2.5-cm erythematous, raised, nontender lesion localized to skin without underlying tethering

B, Carcinoma and rich lymphoplasmacytic infiltrate (original magnification ×200)

C, Carcinoma showing anaplasia and atypical mitoses (arrowhead) (original magnification ×400)

D, Immunohistochemical staining for p16 with strong and diffuse expression (original magnification ×200)


A man in his 20s presented with a 2-month history of itchy skin lesions on his trunk, arms, and groin

He was otherwise healthy, with no other underlying conditions, and he was taking no medications

He had no history of atopic dermatitis or other eczematous dermatoses

There were no associated extracutaneous symptoms

His family medical history was relevant only in that his mother had systemic lupus erythematosus

On physical examination, there were several erythematous annular patches on the abdomen (flanks and periumbilical region), lower back, groin, wrists, and legs (Figure, A)

The lesions showed slightly raised red-brown borders and a clear center in some patches with no visible scaling, hypopigmentation, induration, or atrophy

Results of laboratory studies including complete blood cell count, biochemical analysis, complement levels, antinuclear antibodies, anti-Ro, anti-La, anti-ribonucleoprotein, anti-Smith, and anti-dsDNA antibodies, as well as serologic testing for syphilis and hepatitis B and C virus, were all normal or negative

A punch biopsy specimen was obtained for histopathologic evaluation (Figure, B and C)

A, Clinical image shows several erythematous annular patches on the flanks and periumbilical region

B, Histopathologic analysis of a punch biopsy sample from the abdomen showing superficial lymphocytic infiltrates in the papillary and superficial reticular dermis

C, There are also prominent vacuolar changes at the dermoepidermal junction, and in some areas mild lymphocytic exocytosis


An 82-year-old Chinese woman presented with a 6-month history of a nonhealing ulcer and multiple indurated plaques on the legs

The first lesion appeared as an erythematous papule, which grew and subsequently ulcerated

Within a few months, she developed other indurated plaques on her legs

The ulcer was painful on palpation, but the plaques were mostly asymptomatic

The patient did not have fevers, chills, weight loss, dyspnea, chest pain, cough, or hemoptysis

She had moved to Canada from China 30 years ago and was unsure about tuberculosis (TB) exposure and Bacillus Calmette–Guérin vaccine status

Her medical history included atrial fibrillation, type 2 diabetes mellitus, dyslipidemia, cerebrovascular disease, hypertension, and Parkinson disease

Physical examination showed a 5 × 4-cm, well-demarcated, oval ulcer with a violaceous, dusky border and central yellow fibrin mixed with granulation tissue on the left lateral aspect of the calf (Figure, A)

There were numerous violaceous to dull red, indurated plaques on the posterior aspect of the legs (Figure, B)

Wound cultures were negative for bacteria, mycobacteria, and fungi (Figure, C and D)


Confluent and reticulated papillomatosis

A woman in her 20s was seen with a 6-year history of recurrent, pruritic skin eruptions involving the middle and lower back

Before evaluation in our department, the patient had undergone a skin biopsy that showed spongiotic dermatitis, had patch testing that was reportedly negative, and received a diagnosis of atopic dermatitis

She was treated with potent topical corticosteroids and oral prednisone, with no improvement

She denied use of heating pads, space heaters, or other forms of external radiation

Physical examination showed several discrete, erythematous, scaly papules admixed with light brown reticulated macules and patches (Figure, A and B)

Punch biopsy specimens were obtained for further evaluation (Figure, C and D)

A, Light brown macules and patches on the back show a strikingly reticular pattern

B, Discrete erythematous and scaly papules and overlying hyperpigmented patches are shown

C, Histopathologic examination shows eosinophilic spongiosis with interface dermatitis, dyskeratosis, and neutrophilic exocytosis (hematoxylin-eosin, original magnification ×20)

D, Prominent dermal melanophages are present (hematoxylin-eosin, original magnification ×20)


An adolescent boy presented with cognitive and behavioral changes, headaches, and progressively worsening weakness of the left arm and leg

The patient was subsequently admitted to our hospital for further evaluation

Sixteen months earlier, the patient was admitted to a hospital for weakness of the left fingers and mild spasticity of the left lower extremity

Magnetic resonance imaging (MRI) at the time revealed a suspicious lesion in the right basal ganglia (Figure, A)

In addition, carotid and intracranial angiography revealed no abnormalities (not shown)

Slight weakness in the left lower extremity was detected 3 months later

Magnetic resonance imaging revealed nonhomogeneous hyperintensity on T2-weighted images in the right basal ganglia without mass effect (Figure, B)

Atrophy of the right cerebral hemisphere and right cerebral peduncle was observed (not shown)

A, T2-weighted axial brain magnetic resonance imaging (MRI) at the basal ganglia level performed 16 months before the current hospitalization showing slight hyperintensity at the right putamen and posterior limb of the internal capsule (arrowhead)

B, T2-weighted axial MRI performed 13 months before the current hospitalization showing moderate hyperintensity at the right basal ganglia without mass effect (arrowhead)

C, T2-weighted axial MRI at the basal ganglia level showing remarkable progression of the lesions in the right basal ganglia and thalamus with heterogeneous high signal intensity and multicystic change (arrowhead)

There was no history of tumors elsewhere, and his family history was unremarkable

Neurological examination revealed distal left hemiparesis, left facial palsy, and decreased pinprick sensation in his left face and extremities

On MRI, the lesion appeared larger than before (Figure, C), with remarkable heterogeneous enhancement (not shown)

Human chorionic gonadotropin (HCG) levels in both serum and cerebrospinal fluid (CSF) were normal

A hormone assay disclosed normal pituitary function


A young boy and his parents presented for consultation about the child’s risk for development of hearing loss, given a family history of deafness in both parents

Both parents were diagnosed with profound, nonprogressive sensorineural hearing loss within the first year of life

A homozygous mutation in the connexin 26 gene (GJB2 [OMIM 121011]) was found in the mother, whereas the father remained without a causative diagnosis

No other relatives had hearing impairment

The child was born full term without complications

Growth and language skills were appropriate for age

Hearing screening at birth and the repeated auditory evaluations at follow-up had normal findings

The physical examination was unremarkable except for some midfacial features consisting of a lateral displacement of the inner canthi of the eyes with a broad nasal root, small nostrils, and medial eyebrow flare (Figure, A)

The same midfacial anomalies were observed in his father (Figure, B), in whom a hypopigmented patch on the left arm and bright blue eyes were also noticed

Visual acuity and kidney function were normal, and no skeletal deformities were appreciated in the child or his father

The child and his father demonstrate a lateral displacement of the inner canthi


A 25-year-old woman with a history of ulcerative colitis (UC) presented to the emergency department with lower abdominal pain

She received a diagnosis of UC 6 years earlier and has taken mesalamine to control UC

She was discharged a week before this admission for a UC flare that was managed with prednisone

Review of systems was notable for diarrhea

however, she denied hematochezia, melena, emesis, fevers, or changes in urination

Her last colonoscopy was 3 years ago, and UC without evidence of dysplasia was confirmed

Otherwise, her medical history was unremarkable

Family history was negative for inflammatory bowel diseases and gastrointestinal malignancies

On examination, she was afebrile with normal vital signs

Her abdomen was tender to palpation in the left lower quadrant, which was soft and nondistended

The patient’s complete blood cell count and comprehensive metabolic panel results were unremarkable

Computed tomographic scan of the abdomen/pelvis demonstrated a thickened colon from the middescending colon to the rectosigmoid

There was also a 2.7-cm intramural abscess in the descending colon

She started receiving piperacillin/tazobactam but began to have increased abdominal pain, emesis, and inability to tolerate oral intake

A repeated computed tomographic scan performed 4 days after the original scan demonstrated that the intramural mass had increased to 3.5 cm and was partially obstructing the descending colon

She underwent a colonoscopy, which demonstrated multiple areas of inflammation in the rectum through the descending colon (Figure 1)

Nothing proximal to the midtransverse colon was visualized because of a large fecal burden


Metastatic gastrointestinal stromal tumor

Advanced desmoplastic small round cell tumor

A man in his 20s presented with a 2-month history of vague, right upper-quadrant abdominal pain, with associated 5-kg weight loss, loss of appetite, and increasing abdominal distension

He reported a small mass in the right scrotum that was evaluated 5 years previously and was reassured to be a nonmalignant lesion

Physical examination was notable for a distended abdomen with a palpable left abdominal mass

Testicular examination revealed an approximately 1-cm firm right spermatic cord nodule

Laboratory tests showed lactate dehydrogenase levels of 818 U/L (to convert to μkat/L, multiply by 0.0167), with no significant β-human chorionic gonadotropin and α-fetoprotein levels

Computed tomography (CT) of the abdomen (Figure, A and B) revealed innumerable masses throughout the abdomen and pelvis, with the largest measuring 17.5 × 14 × 14 cm and a 3.9-cm enhancing lesion in the left hepatic lobe, and a small amount of ascites

Testicular sonogram disclosed a 1.5-cm right epididymal cyst

Percutaneous biopsy and histologic examination of the dominant left abdominal mass revealed neoplastic cells (Figure, C) that were positive for cytokeratin, desmin but negative for S100. Fluorescence in situ hybridization (FISH) was positive for EWS-WT1 rearrangement

A, Coronal view and B, sagittal view contrast-enhanced computed tomographic imaging revealed innumerable abdominopelvic masses

Blue arrowheads indicate the dominant mass and the red arrowhead indicates the liver mass

C, Hematoxylin-eosin stain (original magnification ×40)


An otherwise healthy man in his 40s was referred to our ear, nose, and throat department for the evaluation of a giant, left-sided neck mass

He reported no antecedent neck trauma or neck infection, nor any history of swelling during childhood

He experienced dyspnea, limitation of neck movements, and neck tightness owing to the bulkiness of the lesion

The swelling had been present for approximately 12 months, and the growth was gradual and continuous

Contrast-enhanced T1- and T2-weighted magnetic resonance imaging (MRI) revealed a 15 × 7-cm homogenous ovoid bilobulated cystic mass in the left lateral region of the neck with displacement of the surrounding musculature and vascular structures but no sign of invasion

The imaging of the lesion revealed fibrous septae in the central and inferior parts, with extension to the supraclavicular region (Figure, A and B)

After written informed consent was obtained, the patient underwent total excision of the cystic mass through an apron flap incision combined with T-incision for preservation of cranial nerve XI and sternocleoidomastoid muscle (Figure, C)

A, T1-weighted magnetic resonance image (MRI) shows a homogenous ovoid bilobulated hypointense cystic mass in left parapharyngeal area and posterior cervical region, extending to the supraclavicular triangle

B, T2-weighted MRI demonstrates thin-walled, markedly hyperintense cystic mass indenting neighboring structures

C, Cervical mass with preservation of the vital structures of the neck


A woman in her 20s with a history of cystic fibrosis underwent bilateral endoscopic sinus surgery and medial maxillectomy 4 months after bilateral lung transplantation

She presented to her rhinologist for follow-up 6 weeks after surgery reporting improved nasal obstruction and olfaction, but complained of 2 weeks of throat pain and swelling

Physical examination revealed bilateral tonsillar erythema, exudate, tenderness, and peritonsillar edema

She was prescribed amoxicillin–clavulanic acid for presumed tonsillitis and began to improve

Two weeks later her symptoms returned, now accompanied by new-onset snoring and nasal obstruction

Nasal endoscopy revealed nasopharyngeal soft-tissue swelling with mucopurulent secretions on the left side

She was referred for a computed tomographic scan with contrast, which showed a rim-enhancing, multilocular hypodense collection extending from the left nasopharynx inferiorly to the level of the right palatine tonsil (Figure 1)

On the basis of the radiographic findings, she was taken to the operating room urgently

Intraoperative endoscopy revealed ulceration and necrotic debris in the nasopharynx and oropharynx

Culture and biopsy specimens were obtained


An adolescent girl presented with a history of multiple, slowly growing masses of the face and head

The lesions were first reported when she was 5 years of age and gradually increased in size

However, her medical history was otherwise unremarkable

On clinical examination, the lesions were hard in consistency with normal overlying skin

There was significant bilateral exophthalmos (the left eye was more pronounced), with visual changes, and dental malocclusion

However, there were no clinical signs of endocrinopathy

A skeletal survey showed no involvement of other bones

The patient’s serum calcium, phosphate, alkaline phosphatase, thyroid, and parathyroid hormone levels were within normal limits

A computed tomographic (CT) examination of the craniofacial skeleton was performed (Figure)

Noncontrast axial bone algorithm computed tomographic images of the facial bones


Liposarcoma, conventional myxoid variant

A young boy presented to the emergency department with a 2-week history of left facial and eye pain with intermittent diplopia on upward and lateral gaze

He was otherwise healthy and exhibited no constitutional complaints

His remaining medical, surgical, family, and social history was noncontributory

Examination showed a healthy-appearing child with left abducens nerve palsy and an afferent pupillary defect

There was no chemosis, exophthalmos, or enophthalmos

Findings from nasal endoscopy were unremarkable

A computed tomographic scan of the sinuses without contrast showed a well-circumscribed posterior-medial extraconal mass extending into the orbital apex with smooth, nonaggressive bony remodeling and expansion of the left superior orbital fissure with further dorsal extension into the left cavernous sinus (Figure, A)

Magnetic resonance imaging of the orbits showed that orbital component was inseparable from medial rectus muscle

Tumor also resulted in lateral displacement and compression of the left optic nerve (Figure, B)

The patient underwent an image-guided left endoscopic orbital decompression with biopsy of the orbital mass

Representative hematoxylin-eosin–stained sections are shown in the Figure, C and D

The tumor was negative for FUS (FUsed in Sarcoma

also termed TLS, Translocated in LipoSarcoma)-CHOP (C/EBP HOmologous Protein

also termed DDIT3, DNA Damage-Inducible Transcript 3) fusion oncogene on fluorescent in situ hybridization (FISH)

A, Axial cut of noncontrast computed tomographic (CT) scan of facial bones

B, Axial cut of T1-weighted magnetic resonance image (MRI)

C and D, Representative hematoxylin-eosin–stained histologic sections of the lesion


Borderline lepromatous leprosy with trophic ulcer

A middle-aged man sought treatment for a painful nonhealing foot ulcer of 1-year duration

The lesion had started on the left foot as a painful blister that eventually ruptured to form an ulcer, which subsequently progressed

During this time, multiple hypopigmented asymptomatic lesions appeared on his face and scalp

A diagnosis of multibacillary leprosy was considered previously in another health care facility for which multidrug therapy with rifampicin, 600 mg/mo, dapsone, 100 mg/d, and clofazimine, 50 mg/d, was administered for 6 months

There was no appreciable clinical improvement

On physical examination, an 8 × 6-cm ulcer was noted on the lateral aspect of the dorsum of the left foot (Figure, A)

The ulcer was well defined with regular margins, and the floor was covered by a yellowish slough

Perilesional tenderness and pitting edema were observed

Multiple ill-defined, hypopigmented patches of various sizes were present on the scalp and face (Figure, B)

Lesional appendages and sensations were preserved

Inguinal lymph nodes on both sides were enlarged, nontender, and movable

Peripheral nerve trunks were not thickened, and peripheral arteries could be easily palpated

Skin punch biopsy specimens were obtained from the ulcer (Figure, C and D) and a hypopigmented facial lesion

B, Ill-defined hypopigmented macules on the left side of the face

C, Histologic analysis showing acute ulceration of the epidermis with granulation tissue and infiltrating neutrophils and macrophages (hematoxylin-eosin, original magnification ×100)

D, Histologic analysis showing intracellular and extracellular inclusion bodies (hematoxylin-eosin, original magnification ×1000)


Pigmented purpuric dermatosis, Schamberg type

A woman in her 80s presented with a 1-year history of blanchable, salmon-colored, monomorphic macules and fine telangiectasias localized to her right lower leg (Figure, A)

The asymptomatic patch had slowly enlarged since initial onset, but remained confined to the single extremity

Physical examination revealed agminated and discrete erythematous macules as well as interspersed fine, reticulated telangiectases over the right pretibial leg (Figure, B)

No edema or warmth of the affected area was observed, and there was no evidence of mucosal, conjunctival, or nail involvement

Findings on review of systems were negative for bleeding tendencies or hypercoagulability

A punch biopsy was performed (Figure, C and D)

A, Reticulated, blanchable, salmon-colored patch on the pretibial leg

B, Individual fine, telangiectatic erythematous macules identified on closer inspection

C, Concentric deposits of hyaline material surround dilated and markedly thickened capillaries within the papillary dermis (original magnification ×200)

D, Perivascular hyaline deposits are highlighted strongly by periodic acid–Schiff stain (original magnification ×200)


A man in his 60s presented with severe fatigue

His medical history was significant for primary hyperparathyroidism 6 years prior to presentation, for which the patient refused therapeutic management

The patient was cachectic and exhibited significant muscular weakness

Clinical examination revealed a large tumor on the distal part of the right fourth finger (Figure, A) that had gradually enlarged in recent months

Radiography revealed complete lysis of the underlying phalanx and periosteal bone resorption in the phalangeal tuft band

A, The patient initially presented with a large tumor on the distal part of the right fourth finger

B, Histopathology shows numerous giant cells with multiple osteoclastlike nuclei, and (C) giant multinucleated cells dispersed in contact with fibers associated with the presence of a few small vessels

Laboratory evaluation revealed hypercalcemia at 3.6 mmol/L (reference range for total calcium, 2.05-2.55 mmol/L [to convert to mg/dL, divide by 0.25]), hypophosphatemia at 0.65 mmol/L (reference range for phosphate, 0.87-1.45 mmol/L), and elevated serum parathyroid hormone at 380 pmol/L (reference range, 1.6-6.9 pmol/L [to convert to ng/L, multiply by 1.355])

A chest radiograph revealed an important and unexplained deformation of the ribs

We performed a 3-mm punch skin biopsy on the tumor and performed histopathological analysis (Figure, B and C)


A young girl presented for evaluation of hair loss

The mother stated that the patient was born with normal-appearing dark hair that fell out days after birth

This was replaced with “peach fuzz,” with no subsequent regrowth of normal hair

Family history was significant for similar hair loss in the patient’s maternal grandmother and maternal cousin

The patient had otherwise normal development

On physical examination, short, brittle terminal hairs of varying lengths covered the entire scalp

Follicular hyperkeratosis and perifollicular erythema were present, most prominently on the parietal and occipital scalp (Figure, A)

Mild perifollicular keratotic papules were noted on the posterior upper arms

Her eyebrows and lashes were not affected

Results of trichography are shown (Figure, B)

Photograph of a young patient with hair loss depicts shortened, thin hairs on the scalp of a child with follicular hyperkeratosis

Light microscopy of hair shaft at 4 × magnification shows a beaded appearance


A healthy 6-year-old boy presented to the emergency department after experiencing a bicycle handlebar injury

He complained about abdominal pain and had vomited twice

At physical examination, according to the Advanced Pediatric Life Support protocol, he had normal vitals results with pain during palpation of the left abdominal region without guarding

His hemoglobin level was 12.3 g/dL (to convert to grams per liter, multiply by 10) (normal value, 10.5-16.1 g/dL), amylase 68 U/L (to convert to microkatals per liter, multiply by 0.0167) (normal value, <85 U/L), and lipase 25 U/L (normal value, <60 U/L)

A plain chest radiography result showed no signs of traumatic injury

Abdominal ultrasonography results showed a bowel loop with a thickened wall in the left abdominal region with no free abdominal fluid

He was admitted to the pediatric ward for close observation

The next day, his vomiting persisted, especially after oral intake

Computed tomography with oral and intravenous contrast was performed (Figure 1)

Computed tomography, axial reconstruction (A) and coronal reconstruction (B)


Salpingitis or sactosalpinx (eg, pyosalpinx or hydrosalpinx)

Nonspecific abdominal pain or pelvic inflammatory disease

A woman in her mid-20s who was 8 weeks pregnant presented to the emergency department for abdominal pain localized in the right iliac fossa (RIF), numbness in the right lower limb, and nausea and vomiting

On examination she had tenderness in the RIF with a positive Blumberg sign

blood testing showed leukocyte count 10 450/μL (to convert to ×109/L, multiply by 0.001) without any shift, C-reactive protein 1.29 mg/dL (to convert to nanomoles per liter, multiply by 0.331), and hemoglobin 11.4 g/dL (to convert to grams per liter, multiply by 10)

The Alvarado score was 7. A transabdominal ultrasonographic scan showed a tubular structure in the RIF consistent with a mildly inflamed appendix and stratification of the appendiceal wall (7 mm in the proximal and 11 mm in the appendiceal distal tract)

A small amount of free fluid was present in the Douglas pouch

A transvaginal ultrasonographic scan confirmed normal intrauterine gestation with a vital embryo

Working diagnosis was uncomplicated appendicitis and initial conservative management was amoxicillin clavulanate because of the potential risks of miscarriage associated with performing an avoidable appendectomy and general anesthesia during early gestation

The patient initially improved and was discharged home 2 days later with an Alvarado score of 4

Three days later she returned to the emergency department with recurrent pain

the clinical and ultrasonographic findings were unchanged, without evidence of complicated appendicitis, intra-abdominal fluid collection, or abscess

The Alvarado score was 5. The patient was admitted to the surgical ward and given intravenous antibiotics

In the next 48 hours the symptoms and pain did not resolve, although inflammatory markers were low and the patient was not septic

The surgeon on call requested an urgent magnetic resonance imaging (MRI) investigation (Figure 1)

Magnetic resonance imaging showed the gestational chamber and a normal intrauterine pregnancy as well as the presence of a tubular structure in the right iliac fossa (RIF) (A) and what appeared to be an inflamed, thickened appendix (9.83 mm in the proximal appendix) (B)


Primary laryngeal carcinoma in the setting of extensive, recurrent head and neck SCC

A woman in her 80s with a history of recurrent oral cancer presented with a new, biopsy-confirmed, squamous cell carcinoma (SCC)

Her oncologic history began 16 years ago with diagnosis and local resection of a lesion on the palate

Cancer recurrence at the left buccal mucosa was identified and excised 10 years later

She then was diagnosed with 3 recurrences of SCC in rapid succession

Each malignant neoplasm was locally resected and the patient was also treated with adjuvant radiotherapy for the last episode

She remained asymptomatic, and a routine surveillance clinical examination uncovered a sixth lesion at the margin of a palatal graft

The patient’s medical history was also noted for a total thyroidectomy in the 1950s, complicated by recurrent laryngeal nerve injury

She had a history of tobacco use and stopped smoking cigarettes in the 1970s

Physical examination and laryngoscopy findings confirmed a painless lesion on the left side of the palate and immobility of the left vocal cord

Positron emission tomography (PET) was performed to assess extent of disease and to plan treatment

The PET scan results showed focal fludeoxyglucose F 18 localization within the known oral cavity SCC (Figure 1A) and in a small, level IIA lymph node, located lateral to the upper right internal jugular vein

There was unexpected, prominent, metabolic activity in the medial and asymmetrically enlarged left vocal cord (Figure 1B)

A, Positron emission tomography reveals focal fludeoxyglucose F 18 uptake in biopsy-confirmed squamous cell carcinoma of the left palatal graft margin (arrowhead)

B, Increased metabolic activity in the left vocal cord (arrowhead)


A woman in her 40s presented with a 2-month history of a slowly enlarging, asymptomatic anterior septal mass

She denied a history of localized trauma, substance abuse, or prior endonasal surgery

Examination revealed a nontender, 8-mm, pink-red, soft, fleshy growth just posterior to the membranous septum near the nostril apex

Histopathological analysis demonstrated a well-circumscribed submucosal lesion comprised of bland, round, syncytial cells, arranged in a concentric fashion around variably sized slit-like vascular spaces, a minority of which were staghorn in appearance (Figure, A-C)

No significant perivascular hyalinization was identified

The overlying nasal mucosa and surrounding submucosal glands were unremarkable

Immunohistochemical stains demonstrate the cellular population to be strongly positive for smooth-muscle actin (SMA), muscle-specific actin, and CD34 (Figure, D), but negative for B-catenin and epithelial membrane antigen

Histopathology of asymptomatic septal mass shows (A) a well-circumscribed, unencapsulated lesion based in the submucosa with an intact overlaying squamous and respiratory mucosa (hematoxylin-eosin)

(B) bland, vaguely spindled cells arranged around prominent thin-walled vessels with a “staghorn” branching configuration (hematoxylin-eosin)

(C) the lesional cells are oval to spindle-shaped with abundant cytoplasm and ill-defined cell borders (hematoxylin-eosin)

(D) the lesional cells are stained diffusely with myoid markers, including smooth-muscle actin and muscle-specific actin (muscle-specific actin stain)


A man in his 60s presented with a 6-month history of dysphagia, a 3-month history of a 2.268-kg weight loss (to convert to pounds, divide by 0.454), and a right neck mass

Tobacco history was minimal and distant, and alcohol use was social only

Physical examination, including flexible nasolaryngoscopy, was notable for a large smooth nonulcerated right base of tongue mass with almost complete pharyngeal airway obstruction, and a 4-cm right level II lymph node

Computed tomography (CT) imaging revealed a 3-cm base of tongue–lingual tonsil mass with multiple right Ib, IIa, and II/III nodes, the largest of which was 2.0 cm by 3.0 cm

Awake tracheotomy and direct laryngoscopy with biopsy of right base of tongue mass lesion was performed

Histological analysis showed sheets and clusters of small round-oval uniform cells with minimal cytoplasm, granular chromatin pattern, and prominent nuclear molding (Figure, A) with positive immunoreactivity for cytokeratin (CK) 7 (Figure, B) and synaptophysin (Figure, C)

a high mitotic rate was also exhibited (Figure, D)

The cells were negative for CK 5 and 6, CK 20, NUT, p63, and chromogranin

Polymerase chain reaction (PCR) detected human papillomavirus (HPV) 16 DNA and did not detect HPV 6, 11, and 18 DNA

Histopathological analysis of the tongue lesion shows (A) sheet-like growth pattern with Azzopardi-type crush artifactual distortion of the neoplastic cells (original magnification ×100) (the insert shows round-oval compact molded nuceli, a high nuclear:cytoplasmic ratio, and granular chromatin pattern without conspicuous nucleoli [original magnification ×400])

B, cytokeratin 7–positive immunoreactivity (original magnification ×200)

C, synaptophysin-positive tumor cells (original magnification ×200)

and D, a high proliferation rate by Ki-67 staining (original magnification ×200)


A man in his 60s presented to the otolaryngology clinic with a 1-month history of clear drainage from his left naris during activity

Approximately 1 month prior he had been admitted to the hospital and treated for meningitis

During his hospital course, a computed tomographic (CT) scan of his head revealed a lytic lesion of the left occipital bone

After treatment with intravenous antibiotics and steroids, his neurologic examination results returned to baseline, and he was discharged home

Magnetic resonance imaging (MRI) was deferred to the outpatient setting

At the otolaryngologist’s office, the patient stated that he had not experienced otalgia, otorrhea, tinnitus, or vertigo

His examination revealed clear nasal discharge and a normal otoscopic finding

His audiogram demonstrated normal sloping to moderate sensorineural hearing loss with type A tympanometry result on the right and type A on the left

His word recognition score was 100% bilaterally

The collection of nasal discharge for β-2 transferrin analysis was attempted, but insufficient quantity was obtained

To evaluate for a skull base defect and cerebrospinal fluid (CSF) leak, a noncontrast CT scan of the temporal bones was obtained (Figure, A and B)

This demonstrated a large area of bony destruction and osteolysis involving the left occipital bone

A T2-weighted MRI sequence showed a lesion, isointense to CSF, with thinning of the bony cortex (Figure, C and D)

Based on the imaging, the differential diagnosis included metabolic, infectious, or metastatic lesions to the bone

A and B, Noncontrast temporal bone computed tomographic images

C, T2-weighted fast imaging using steady state acquisition magnetic resonance imaging sequence demonstrating a signal isointense to cerebrospinal fluid in the left occipital bone

D, Reformatted postcontrast T1 image shows the herniation of nonenhancing meninges through the defect


A toddler with a history of neurofibromatosis type 1 (NF1) and juvenile xanthogranulomas presented to the clinic for an eruption on his trunk that began 2 months previously with multiple round red patches that had been slowly increasing in size

Treatment with griseofulvin and clotrimazole had not improved the rash

One day prior to presentation he had developed a fever and was diagnosed with otitis media in the emergency department

Acetaminophen, ibuprofen, and amoxicillin were used for treatment, but the child was receiving no other medications

Physical examination revealed multiple annular, indurated, dusky red plaques with central clearing and trailing scale ranging from 1 to 6 cm in diameter on his trunk (Figure, A and B)

A 4-mm punch biopsy of the largest lesion on his back was performed and sent for histopathologic examination (Figure, C)

A and B, Annular dusky red indurated plaques on the right flank with central clearing and trailing scale

Scattered café au lait macules and annular dusky red indurated plaques with central clearing and trailing scale on the back

C, Hematoxylin-eosin stain (original magnification ×40) demonstrates perivascular and periadnexal infiltrate

D, Hematoxylin-eosin stain (original magnification ×400)


Cutaneous microvascular occlusion secondary to essential thrombocytosis

A 69-year-old woman presented for the evaluation of a slowly progressive, asymptomatic cutaneous eruption on her hands and forearms, as well as an enlarging, painful ulcer on her left leg that developed 6 months earlier

Her medical history was notable for essential thrombocytosis, which had been complicated by portal vein thrombosis, and she had been receiving treatment with hydroxyurea and rivaroxaban for the past 2 years

Despite worsening cutaneous disease, she otherwise felt well and denied associated fevers, weakness, weight loss, myalgias, arthralgias, or other constitutional symptoms

Physical examination revealed atrophic and reticulated violaceous plaques with a striking photoaccentuated distribution on the patient’s dorsal hands and forearms (Figure, A)

Scaly, violaceous plaques were also present on the thenar eminences and radial aspects of her first 2 fingers bilaterally (Figure, B)

Prominent poikiloderma was seen on her sun-exposed chest and neck, and a large, stellate ulcer was present on her left distal lower leg (Figure, C)

A lesional skin biopsy was performed on the patient’s left forearm (Figure, D)

A, Clinical photograph of violaceous reticulated plaques on the dorsal aspect of the hands

B, Clinical photograph of violaceous, scaly plaques on the thenar and radial aspects of the thumb and second digit (mechanic hands)

C, Clinical photograph of a shallow ulcer with stellate margins on the left distal lower leg

D, Histopathology (hematoxylin-eosin stain, original magnification x100)


Cutis marmorata telangiectatica congenita (van Lohuizen syndrome)

A woman in her 40s presented with a 4-hour history of ataxia and left-sided hemidysesthesia

Annular patches of violaceous erythema forming an irregular net-like pattern were noted on her trunk and extremities (Figure, A and B)

The patient stated that these skin changes had appeared 2 years prior

Her medical history was significant for 5 strokes over the past 6 years and Raynaud syndrome for the past 2 years

In the past, despite extensive workup, no definitive diagnosis had been established

Complete blood cell count, liver function tests, creatinine, C-reactive protein, erythrocyte sedimentation rate, and urinalysis results were normal

Antinuclear antibodies and complement C3 and C4 levels were unremarkable

Antiphospholipid antibody and lupus anticoagulant screening results were repeatedly negative and no evidence of thrombophilia was found

Magnetic resonance imaging showed acute dot-like diffusion anomalies in the medial and posterior cerebral artery-supplied areas, as well as old stroke residues (Figure, C)

Transesophageal echocardiography showed no abnormalities

A skin biopsy sample was taken from the patient’s left thigh (Figure, D)

A, Patient’s lower back and buttocks and, B, thighs and upper calves show generalized, irregular, violaceous, net-like erythema

C, Magnetic resonance imaging of the brain showing old stroke residues

D, Hematoxylin-eosin stain (original magnification ×10)


A young girl with an unremarkable medical history presented with 1 week of drowsiness, double vision, and left cranial nerve VI and VII palsies

Brain magnetic resonance imaging (MRI) revealed T2-weighted and fluid-attenuated inversion recovery changes with associated patchy enhancement in the brainstem, left frontal lobe, left cingulate gyrus, and left parietal lobe without restricted diffusion (Figure, A and B)

Cervical spine imaging results were negative

Cerebral spinal fluid (CSF) study results were unremarkable (red blood cell count, 0 × 106/µL [to convert to ×1012/L, multiply by 12]

white blood cell count, 0/µL [to convert to ×109/L, multiply by 0.001]

glucose, 61 mg/dL [to convert to millimoles per liter, multiply by 0.0555]

and total protein, 19 g/dL [to convert to grams per liter, multiply by 10]), and CSF cytologic test results were negative for malignancy

Oligoclonal bands and IgG index were not measured

The results of serum cell-based aquaporin 4 antibody tests were negative

She was diagnosed with acute demyelinating encephalomyelitis (ADEM) and received 5 days of high-dose intravenous corticosteroids followed by a 1-month course of oral prednisone with improvement back to baseline in 3 weeks

Brain magnetic resonance imaging during initial presentation: T2-weighted and fluid-attenuated inversion recovery (FLAIR) hyperintensity in the left frontal lobe (A) and associated enhancement on T1-weighted postcontrast imaging (B)

Brain magnetic resonance imaging during second attack: resolution of the initial left frontal lobe lesion now with T2-weighted and FLAIR recovery hyperintensity in the left parietotemporal region (C) with associated patchy enhancement (D)

She presented again, 15 months later, with 2 weeks of dysarthria and progressive ataxia without change in mental status

Subsequent brain MRI revealed resolution of the prior supratentorial involvement and new T2/fluid-attenuated inversion recovery changes with patchy enhancement in the brainstem and a large new lesion in the left parietotemporal area (Figure, C and D)

Head magnetic resonance angiography findings were unremarkable

The CSF studies revealed a mild lymphocytic pleocytosis (white blood cell count of 11/µL with 3 neutrophils, 6 lymphocytes, and 2 monocytes) with 1 red blood cell, glucose level of 57 mg/dL, and total protein level of 39 g/dL

The results of the CSF viral polymerase chain reaction studies, including cytomegalovirus, varicella-zoster virus, herpes simplex virus, enterovirus, and Epstein-Barr virus, were negative

The CSF bacterial culture returned without growth

The results of tests for the CSF oligoclonal bands and IgG index were negative

The patient received pulse dose corticosteroids (intravenous solumedrol, 30 mg/kg per dose every 24 hours) for 5 days with resolution of her truncal ataxia during hospitalization

She was discharged with a month-long oral prednisone taper starting at 20 mg/d

When tapered down to prednisone, 5 mg every other day, she developed a right facial droop with recurrent ataxia


A 16-year-old boy presented with a changing skin lesion on his right lower back

The patient reported the presence of a stable red lesion since he was 7 years old

however, over the preceding month, this lesion developed new black spots within it

There was no associated pain, pruritus, or bleeding

His family history was notable for dysplastic nevus syndrome in his father and melanoma in a paternal uncle and cousin

On examination of the right lower back, there was a cluster of 1-mm flat purple-black papules coalescing into a 1.5 × 1.0-cm oval plaque with surrounding erythema (Figure, A)

On reinspection of the lesion at a subsequent visit, the morphology had significantly changed

there were 1-mm skin-colored to pink thin-walled vesicles clustered within a 1.5 × 1.0-cm oval telangiectatic plaque (Figure, B)

A, Flat purple-black papules coalescing into an oval patch with surrounding erythema

B, Skin-colored to pink thin-walled vesicles making up an oval telangiectatic patch


A previously healthy 40-year-old man presented with a 3-month history of a right breast mass slowly enlarging with associated pain

The patient denied history of local trauma, and his family history was negative regarding breast or ovarian cancers

The patient had no history of liver disease, hormonal therapy, or radiation to the chest wall

The physical examination disclosed an obese man with no signs of hypogonadism or liver failure

There was a 3 × 4-cm hard, irregular, mobile nodule in the retroareolar area of the right breast, tethered to the overlying skin but not fixed to the underlying muscle

There were no other masses on the chest wall

The ipsilateral lymph nodes were palpable

Right mediolateral oblique mammography (Figure, A) and computed tomography scan of the chest (Figure, B) are shown

A, Right mediolateral oblique view of male breast showing a breast mass and axillary lymph nodes

B, Computed tomography of the chest showing the right breast mass involving the skin but not the pectoralis muscle


Superior mesenteric artery thromboembolism

A 68-year-old African American man presented to the emergency department with 72 hours of progressively worsening diffuse abdominal pain, distension, nausea, and nonbilious emesis

He was previously healthy and had no prior abdominal operations

The patient noted pencil-thin stools that occurred during the past several months but had not had a colonoscopy in more than a decade

The rest of his history was noncontributory

He was mildly tachycardic but normotensive and afebrile

Physical examination revealed a lethargic patient with a distended abdomen, diffuse rebound tenderness, and involuntary guarding

No surgical scars or inguinal hernias were apparent on examination

The only abnormal laboratory values were as follows: sodium concentration, 126 mEq/L (reference range, 135-145 mEq/L) (to convert to millimoles per liter, multiply by 1)

lactate concentration, 58.6 mg/dL (reference range, 0-18.0 mg/dL) (to convert to millimoles per liter, multiply by 0.111)

and white blood cell count, 18 500/μL (reference range, 3400-10 000/μL) (to convert to ×109/L, multiply by 0.001)

He was resuscitated with 2 L of lactated Ringer solution and underwent computed tomography of the abdomen and pelvis with intravenous contrast

Computed tomography revealed diffuse free fluid but without free air and several loops of dilated small bowel with thickened, hypoenhancing bowel walls

The mesentery was markedly edematous (Figure)

The rest of the small bowel were dilated and air and fluid filled but had normal bowel wall enhancement

Axial computed tomography image of the abdomen and pelvis

Blue arrowhead indicates intravenous contrast demonstrating mesenteric edema

yellow arrowhead, hypoenhancing bowel walls

and white arrowhead, a contrast filling defect


A woman in her 50s presented to the emergency department with acute, severe, left flank pain

There was no medical history of trauma, fever, or hematuria

She was receiving therapy for mantle cell lymphoma and had previously undergone 1 cycle of the Nordic protocol (comprising cyclophosphamide, doxorubicin, vincristine, prednisolone, cytarabine, and rituximab).1  However, this resulted in tumor lysis syndrome and neutropenic sepsis

The patient was reluctant to undergo further infusional therapy and was switched to ibrutinib, 560 mg, once daily

During the 2-month period that she was receiving ibrutinib therapy, there were no concurrent administrations of anticoagulants

At presentation, she was hypotensive (blood pressure, 79/45 mm Hg) with conjunctival pallor and left renal angle tenderness

The patient’s hemoglobin count was low (7.6 g/dL

to convert to g/L, multiply by 10.0), which represented a significant decrease from the baseline (10.6 g/dL) measured 1 month before presentation

She was also found to have acute-onset thrombocytopenia (40×109/L

reference range, 140-400×109/L) and leukocytosis (12.75×109/L, reference range, 4-10×109/L)

Her coagulation profile (prothrombin time) was normal

A computed tomographic (CT) scan of the abdomen and pelvis was performed (Figure 1A) and compared with a similar scan performed 4 months prior (Figure 1B)

A, Findings from computed tomographic scan at presentation

B, Previous findings from computed tomographic scan


A woman in her 30s presented with a 7-month history of right-sided nasal obstruction

She had been treated with several courses of oral antibiotics and intranasal steroids without improvement of symptoms

She had no history of sinus infections or allergic rhinitis

Nasal obstruction was constant and associated with right paranasal pressure

Results from a head and neck examination, including cranial nerve, were normal, except for the results from nasal endoscopy, which showed a deviated septum and a soft-tissue mass emanating from the right middle meatus inferior to the middle turbinate that seemed to have a polypoid appearance superiorly and a papillomatous appearance inferiorly

A computed tomographic (CT) scan of the sinuses without contrast showed complete opacification of the right paranasal sinuses with mass effect on the medial maxillary wall with mild hyperostosis posterolaterally

The patient underwent an endoscopic right sinonasal mass biopsy

Intraoperatively, further excision of the mass was aborted owing to an unusual appearance of the mass as well as clear fluid exuding from the mass during microdebridement

Pathologic analysis of the biopsied tissue revealed a uniform spindle cell tumor comprised of cellular fascicles and tumor cells with bland nuclei (Figure, A and B)

A magnetic resonance image (MRI) of the face with contrast was obtained postoperatively to further delineate the mass and evaluate for intracranial extension

Initial histologic stains showed the tumor to be positive for S-100 and actin (Figure, C and D) and negative for GFAP, CD34, and cytokeratin

Additional immunostains showed the tumor to be negative for SOX-10 and B-catenin

D, Smooth muscle actin immunohistochemical stain


A young boy presented with a 4-week history of an enlarging right facial mass, which had not responded to a course of azithromycin prescribed by his pediatrician

He had a history of asthma, chronic otitis media with effusion, and obstructive sleep apnea and had undergone 3 sets of tympanostomy tubes and an adenotonsillectomy

He had no history of fevers or other constitutional symptoms

Physical examination demonstrated a 3-cm firm and tender right parotid mass

Clear saliva could be expressed from the Stensen duct

A computed tomographic (CT) scan was performed, showing a discrete 2 × 2-cm necrotic mass in the right parotid gland (Figure, A)

A fine-needle aspirate (FNA) yielded a cellular sample with spindloid features, suggesting a neoplasm of uncertain subtype

A broad differential diagnosis was raised, including both benign and malignant salivary neoplasms

Per recommendation of the head and neck multidisciplinary tumor board, the patient underwent total parotidectomy and neck dissection because the mass was grossly infiltrative of the parotid, and several enlarged level IB and II lymph nodes were observed at the time of surgery

The mass was shaved off the marginal mandibular branch of the facial nerve because it was adherent to it

Permanent histopathologic images showed normal parotid gland architecture effaced by confluent granulomata with Langhans-type giant cells and central necrosis (Figure, B)

Additional studies, including flow cytometry and tissue cultures, were obtained

A, Coronal computed tomographic (CT) image demonstrating right parotid mass and level II adenopathy

B, The normal parotid gland architecture is effaced by confluent granulomata with necrosis (hematoxylin-eosin, original magnification ×200)