Idiopathic basal cell carcinoma in children.

Basal cell carcinoma (BCC) is the most common nonmelanoma skin cancer in humans, and is the most common malignant neoplasm among adults in the US. The peak incidence occurs in the seventh decade of life. Childhood onset of BCC is rare and usually associated with genetic disorders such as basal cell nevus syndrome, Bazex syndrome, albinism, and xeroderma pigmentosum or due to radiation therapy. Idiopathic childhood onset is less common. A girl with idiopathic onset of BCC who was treated with Mohs micrographic surgery is reported. A computerized review of the literature was performed. A total of 108 children including this patient were reported with idiopathic de novo BCC. Most of the tumors were nodular and located on the head, the same as in adults. Basal cell carcinoma in children is probably the result of genetic background and intense ultraviolet radiation exposure. The preferred treatment is excision with the Mohs micrographic technique.

Bullous pemphigoid in infancy: Clinical and epidemiologic characteristics.

BACKGROUND: Recent cases of infants with bullous pemphigoid (BP) prompted us to explore the clinical and laboratory features of childhood BP. OBJECTIVES: We sought to explore the characteristics of infantile BP and compare them with childhood BP. METHODS: All new consecutive cases of infantile BP referred to dermatologic departments in Israel during 2004 to 2006 were retrospectively reviewed. All reported cases in the English- and foreign-language medical literature were gathered and statistical analysis of all cases was performed. RESULTS: Reports on infantile BP are rapidly increasing. Among 78 reported children with BP, 42 (53%) occurred in the first year of life. The incidence of infantile BP in Israel in the last years is 2.36:100,000/y. Predisposition for acral involvement is significantly higher in infantile BP than in childhood BP (79% vs 17%, P < .001), whereas genital involvement is very rare (5% vs 44%, P = .002). Laboratory parameters were not significantly different, except for a more frequent IgM deposition at the dermoepidermal junction in childhood BP (29% vs 10%, P = .042). LIMITATIONS: Statistical analyses of published cases may not be representative and could be affected by possible reporting biases. CONCLUSIONS: Infantile BP may not be as rare as commonly stated. Age-related differences in regional distribution of lesions in BP were demonstrated. No major differences regarding laboratory results, treatment, and prognosis were found.

Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population.

Epidermolysis bullosa (EB) encompasses a large group of inherited blistering skin disorders caused by mutations in at least 10 genes. Numerous studies, mainly performed in European and US families with EB, have revealed a number of characteristic epidemiological and genetic features, which form the basis for current diagnostic and counseling strategies. However, little is currently known about the molecular epidemiology of EB in Middle East populations. In the present study, we assessed 55 EB families for pathogenic sequence alterations in the 10 genes known to be associated with EB. Our results show unique EB subtype distribution and patterns of inheritance in our cohort. We also failed to detect recurrent mutations frequently encountered in Europe and the US, and did not consistently observe genotype-phenotype correlations formerly established in Western populations. Thus, the molecular epidemiology of EB in the Middle East is significantly different from that previously delineated in Europe and the US. Our data raise the possibility that similar differences may also be found in other genetically heterogeneous groups of disorders, and indicate the need for population-specific diagnostic and management approaches.

Interaction of hairless and thyroid hormone receptor is not involved in the pathogenesis of atrichia with papular lesions.

Atrichia with papular lesions (APL) (MIM 209 500) is a rare autosomal recessive disease characterized by early onset of atrichia, followed by a papular eruption within the first years of life. Recent studies demonstrating linkage to chromosome 8p21 and further mutation detection in the hairless gene (HR) have established the molecular basis of APL. This study describes the case of a 16-year-old female with APL due to a missense mutation, D1012N, in the hr-thyroid hormone receptor interacting domain 2 (TRID2) of the HR. Using functional and biochemical analysis, it was determined that this mutation does not significantly affect hr-thyroid hormone receptor interaction. This result suggests that the TRID2 domain either is dispensable in the hr-TR interaction or is not involved in the pathogenesis of APL.