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.

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.

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.

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia.

Poikiloderma with Neutropenia (PN), Clericuzio-Type (OMIM #604173) is characterized by poikiloderma, chronic neutropenia, recurrent sinopulmonary infections, bronchiectasis, and nail dystrophy. First described by Clericuzio in 1991 in 14 patients of Navajo descent, it has since also been described in non-Navajo patients. C16orf57 has recently been identified as a causative gene in PN. The purpose of our study was to describe a spectrum of C16orf57 mutations in a cohort of PN patients including five patients of Athabaskan (Navajo and Apache) ancestry. Eleven patients from eight kindreds were enrolled in an IRB-approved study at Baylor College of Medicine. Five patients were of Athabaskan ancestry. PCR amplification and sequencing of the entire coding region of the C16orf57 gene was performed on genomic DNA. We identified biallelic C16orf57 mutations in all 11 PN patients in our cohort. The seven new deleterious mutations consisted of deletion (2), nonsense (3), and splice site (2) mutations. The patients of Athabaskan ancestry all had a common deletion mutation (c.496delA) which was not found in the six non-Athabaskan patients. Mutations in the C16orf57 gene have been identified thus far in all patients studied with a clinical diagnosis of PN. We have identified seven new mutations in C16orf57 in PN patients. One of these is present in all patients of Athabaskan descent, suggesting that c.496delA represents the PN-causative mutation in this subpopulation.

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.

Fibromatosis colli with hypertrichosis: a rare case of cutaneous manifestation of a muscular disorder.

We describe the clinicopathologic features of an unusual case of fibromatosis colli. The lesion was rock hard, lateral, tightly affixed to the clavicle, and with overlying hypertrichosis.

Nijmegen breakage syndrome associated with porokeratosis.

Nijmegen breakage syndrome (NBS) is a rare DNA repair disorder caused by mutations in the NBS-1 gene (8q21). Patients with this autosomal recessive condition have characteristic facial features, microcephaly present at birth, immunodeficiency, predisposition to malignancy, ionizing radiation hypersensitivity, and growth retardation. We report a 12-year-old boy with NBS associated with porokeratosis; to our knowledge this association has not previously been reported.

Halo congenital nevocellular nevi associated with extralesional vitiligo: a case series with review of the literature.

Halo formation in association with congenital nevi is uncommon and is postulated to have an immunologic etiology. In this report, we present nine cases of patients with congenital nevi and vitiligo who uniquely developed both halo formation around the nevi in addition to vitiligo formation in distinctly separate locations. While the precise etiology of halo formation and vitiligo remains uncertain, several theories suggest that both phenomena result from an immunologic response to pigment cells, whether in the "normal" skin of vitiligo or in the excessively pigmented congenital nevus.