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PubMed · 3794888

Rapp-Hodgkin ectodermal dysplasia.

H W Schroeder·V P Sybert
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Abstract

Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant condition characterized by distinctive craniofacies, cleft lip or palate, dental hypoplasia with caries, dystrophic nails, and decreased to absent sweat glands and hair follicles. We report the third family to be described, and distinguish the condition from similar syndromes.

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Ectodermal DysplasiaFemaleGenes, DominantHumansInfantCase ReportsJournal ArticleResearch Support, U.S. Gov't, P.H.S.

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BibTeXRIS

H W Schroeder, V P Sybert. 1987. Rapp-Hodgkin ectodermal dysplasia.. https://doi.org/10.1016/s0022-3476(87)80291-3

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Agenesis of scalp is an uncommon but well-recognized clinical entity. Congenital scalp and skull defects can be either obvious or occult; over 300 cases have been reported in literature. Aplasia cutis congenita (ACC) is recognized as a heterogeneous disorder, all characterized by focal absence of the epidermis, dermis and sometimes the calvarium and/or dura. We present a case of ACC in an infant whose mother was exposed to a teratogenic drug (Methimazole--an antithyroid drug) during pregnancy. This case report is presented to highlight the steps to successful management. Definitive full thickness scalp cover at the earliest avoids secondary infection, eschar formation and exsanguination.

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