Proliferative nodule resembling angiomatoid Spitz tumor with degenerative atypia arising within a giant congenital nevus.

Proliferative nodules arising within congenital melanocytic nevi often present a diagnostic challenge given a close resemblance to melanoma. Several morphologic variants have been characterized. In difficult cases, ancillary molecular tests can be used to better exclude the possibility of malignant degeneration. Herein, we report a case of an unusual proliferative nodule with overlapping features of angiomatoid Spitz tumor and ancient melanocytic nevus, which demonstrated normal findings on both chromosomal microarray and a gene expression profiling assay.

A pediatric case of pigmented epithelioid melanocytoma with chromosomal copy number alterations in 15q and 17q and a novel NTRK3-SCAPER gene fusion.

Pigmented epithelioid melanocytoma (PEM) represents a group of rare, heavily pigmented melanocytic tumors encompassing lesions previously designated as "animal-type melanomas" and "epithelioid blue nevi." Despite the association of multiple such tumors in the setting of Carney complex, most cases of PEM occur spontaneously as solitary neoplasms in otherwise healthy patients. PEM may arise in both children and adults, and has a known propensity to spread to the regional lymph nodes. Despite this latter finding, recurrence at the biopsy site or spread beyond the lymph node basin is exceptionally uncommon. Although the molecular basis for PEM continues to be characterized, findings to date suggest that this category of melanocytic neoplasia has genetic alterations distinct from those seen in common nevi, dysplastic nevi, Spitz nevi, and melanoma. Herein, we present an in-depth clinical, histopathologic, and molecular analysis of a case of PEM occurring on the scalp of a young African American girl found to have a novel NTRK3-SCAPER gene fusion.

ABCA12 homozygous mutation in harlequin ichthyosis: Survival without systemic retinoids.

Harlequin ichthyosis (HI) is associated with high mortality. Early systemic retinoids are widely used, although their use remains debatable. We reported two neonates with homozygous mutations in ABCA12 consistent with harlequin ichthyosis who survived to discharge home with intensive care and without use of systemic retinoids.

Poikiloderma with neutropenia and associated squamous cell carcinoma: A case report.

Here, we describe a case of a patient with known poikiloderma with neutropenia who developed cutaneous squamous cell carcinoma in a chronically sun-exposed area at the age of 14. To date, there is only one other report of this association. This report highlights the need for routine skin cancer screening in patients with this diagnosis as well as the importance of a correct initial diagnosis.

Photodermatoses: Kids are not just little people.

Photodermatoses are a group of skin disorders caused by abnormal reaction to ultraviolet radiation. Photodermatoses are divided into four groups: (1) immunologically mediated photodermatoses; (2) chemical- and drug-induced photodermatoses; (3) photoaggravated dermatoses; and (4) hereditary photodermatoses. This contribution discusses differences in the approach and diagnosis of pediatric and adult patients with suspected photodermatoses, focusing on immunologically mediated photodermatoses and chemical- and drug-induced photodermatoses.

Lymphoplasmacytic Plaque in Children: A Demonstrative Case of an Emerging Clinicopathologic Entity.

Lymphoplasmacytic plaque in children is a rare but increasingly reported clinicopathologic entity characterized by extratruncal erythematous solitary plaques, most often in children and Caucasian girls, that are thought to be a reactive or pseudolymphomatous process. We report a demonstrative case of lymphoplasmacytic plaque in a 3-year-old girl and discuss the clinical and pathologic experience with this entity.

Congenital Ichthyosiform Erythroderma Superimposed with Chronic Dermatophytosis: A Report of Three Siblings.

Congenital ichthyosiform erythroderma is an autosomal recessive ichthyosis characterized by severe scaling and erythroderma. We report a family of three siblings who were all born with a collodion membrane and presented with diffuse scaling and pruritus. All three children subsequently developed chronic cutaneous dermatophyte infections requiring oral antifungals. One child developed superinfection with methicillin-resistant Staphylococcus aureus requiring antibiotics.

Perioral dermatitis: a review of the condition with special attention to treatment options.

Perioral dermatitis is a common acneiform facial eruption found in both adults and children. Its variants are periorificial and granulomatous periorificial dermatitis. The etiology of perioral dermatitis remains unknown; however, topical corticosteroid use on the face commonly precedes the manifestation of this condition. There are an overwhelming number of treatment options for perioral dermatitis, and the options in children are slightly different from those in adults for both systemic medications and topical treatment. This article provides a literature review of the various applicable treatments available based on the level and quality of the evidence by the US Preventive Service Task Force. Oral tetracycline reveals the best valid evidence. However, if the patient is less than 8 years old, then this oral therapy may not be suitable. Topical metronidazole, erythromycin, and pimecrolimus also represent effective treatment choices with good evidence. Topical corticosteroid use is common in these cases and the question of whether it is a good treatment or a cause remains unanswered. Corticosteroid cream can improve the clinical picture, but there is a risk of rebound when treatment is stopped. We propose a treatment algorithm to assist dermatologists, pediatric dermatologists, and general practitioners encountering this condition.

Malignant melanoma arising in the setting of epidermolysis bullosa simplex: an important distinction from epidermolysis bullosa nevus.

IMPORTANCE: Patients with epidermolysis bullosa (EB) do not carry a significantly increased risk of melanoma but are prone to developing large, markedly atypical melanocytic nevi (EB nevi), which may mimic melanoma clinically and histologically. Many authors now favor a conservative approach in managing atypical pigmented lesions in patients with EB. OBSERVATIONS: We present the case of a 30-year-old woman with severe EB simplex who sought care for a large red and black ulcerated plaque. The clinical differential diagnosis included EB nevus and melanoma. An incisional punch biopsy specimen revealed an atypical melanocytic proliferation with focal florid pagetoid spread and involving elongated rete ridges, consistent with invasive acral lentiginous melanoma. The subsequent amputation was confirmatory. Micrometastasis was detected in 1 of 5 sentinel lymph nodes. CONCLUSIONS AND RELEVANCE: To our knowledge, this is the first reported case of melanoma arising in EB simplex-affected skin. It highlights the difficulty in differentiating melanoma from an EB nevus. Despite the increasing awareness of EB nevi, a high index of suspicion for melanoma should be maintained, and early biopsy is recommended when evaluating large pigmented lesions in patients with EB.

Update in adolescent dermatology.

This dermatology article serves as a quick reference for the physician treating adolescents. We first review the diagnostic approach to a dermatologic problem: configuration, color, pattern, and distribution. The next section discusses diagnosis and management of the most common clinical situations encountered in everyday practice, including skin infections, infestations, dermatitis, hypersensitivity reactions, and papulosquamous disorders. The following section covers conditions that should be managed with the help of a dermatologist, including difficult acute situations such as Stevens-Johnson syndrome, toxic epidermal necrolysis, and necrotizing fasciitis; other chronic situations, including refractory common conditions such as acne and psoriasis, are also considered. We then discuss conditions that should be managed exclusively by a dermatologist, including malignancies, bullous disorders, and less common types of ichthyosis. The final section alerts the physician to dermatologic conditions that may be manifestations of other disorders, necessitating appropriate referral to a different specialist. Examples are immunologic and endocrine disorders, inflammatory bowel disease, collagen vascular disease, and malignancies.

Aplasia cutis congenita with fetus papyraceus: report and review of the literature.

We report a case of a 2-week-old white female who presented with large stellate atrophic skin defects on bilateral thighs and knees at birth. The pregnancy was complicated by the death of monozygotic twin at the 16th week of gestation. This represents aplasia cutis congenita with fetus papyraceus. This rare condition is defined as the congenital skin defect and intrauterine death of fetus with or without a stillborn fetus pressed flat by the growing twin (fetus papyraceus) at delivery time. Aplasia cutis congenita coexisting with fetus papyraceus has a distinctive and reproducible distribution pattern of bilateral symmetrical truncal, buttock, and thigh lesions related to fetal death during the late first to early second trimester. There are at least 44 reported cases of this disorder in the English literature. We discuss our case and review the literature.

Photosensitivity disorders in children: part I.

Photosensitivity disorders in children encompass a diverse group of diseases. Compared to adult patients, underlying systemic disorders, including genetic or metabolic defects, are common causes in pediatric photosensitivity disorders. Photosensitivity in a child should be suspected if the child develops a sunburn reaction in sun-exposed sites after limited sun exposure. Diagnosis of a photodermatosis is made based on careful history taking and a physical examination. Early recognition and prompt diagnosis are essential to minimize long-term complications associated with inadequate photoprotection. In part I of this continuing medical education article, immunologically mediated photodermatoses, photodermatoses caused by exogenous photosensitizers, and the cutaneous porphyrias will be covered.

Photosensitivity disorders in children: part II.

Photosensitivity disorders in children encompass a diverse group of diseases. Some inherited disorders manifest with photosensitivity early in life. Specific extracutaneous association may be the clue to diagnosis in this group of pediatric photodermatoses. Part II of this 2-part review covers hereditary photodermatoses caused by defects in nucleotide excision repair, double strand break repair, or localized or systemic biochemical abnormalities. Diagnosis and management of photoaggravated dermatoses are also discussed. Sun protection strategies are required in all patients with evidence of photosensitivity. Early recognition and prompt diagnosis is essential to minimize the long-term complications associated with inadequate photoprotection.

Skin-of-color epidemiology: a report of the most common skin conditions by race.

To quantify and compare diagnoses according to race in pediatric Health Maintenance Organization (HMO) health plan patients seen in a general dermatology clinic over a 10-year period. Retrospective cohort of health plan pediatric patients seen in the dermatology clinic between 1997 and 2007 was established using an electronic medical record database. Diagnoses and diagnostic codes were recorded according to International Classification of Diseases, Ninth Revision (ICD-9) diagnostic codes grouped on their first three digits. The proportion of patients with each diagnosis was determined according to race and sex, and the 10 most common diagnoses were determined. The most common diagnoses observed in all pediatric patients were acne (28.6%), dermatitis (19.4%), and warts (16.2%), accounting for more than 60% of dermatologic visits by children. Although acne (29.9%), warts (22.6%), and dermatitis (13.1%) were also the most common diagnoses for Caucasian children, African American pediatric patients were most commonly seen for dermatitis (29.0%), acne (27.5%), and dermatophytosis (10.2%). The three most common diagnoses for Asian patients were dermatitis (29.1%), acne (22.2%), and warts (12.6%). Acne remains one of the most common dermatologic diagnoses in children of all races. Differences in frequency of office visits for dermatitis, warts, and dermatophytosis were seen when comparing children of other races with Caucasian children.

Elephantiasis nostras verrucosa on the buttocks and sacrum of two immobile men.

Though typically involving the lower extremities, elephantiasis nostras verrucosa (ENV) can occur in any area affected by lymphedema. Here we report two cases of ENV: one is a biopsy-proven case and the other is a clinically diagnosed case. Both occurred on the buttocks and sacrum of immobile, morbidly obese men who were persistently in the supine or seated position. Whereas classic ENV is not uncommon, this striking presentation on these unusual areas is quite rare.