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PubMed · 12647597

[Ectodermal dysplasias].

C Marques Da Costa·M de la Brassinne
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Abstract

The ectodermal dysplasias form a heterogeneous group of rare and complex genetic diseases with different ectodermal derivates abnormalities. The aim of this paper is to present briefly the anhidrotic form or Christ-Siemens-Touraines's syndrome and the hidrotic form or Clouston's syndrome.

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Ectodermal DysplasiaHumansSkinTooth AbnormalitiesEnglish AbstractJournal Article

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C Marques Da Costa, M de la Brassinne. 2003. [Ectodermal dysplasias].. https://pubmed.ncbi.nlm.nih.gov/12647597/

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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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