Syndrome in Question

Autor: Vanessa Mello Tonolli, Hamilton Ometto Stolf, Cláudio Sampieri Tonello, Rafaelle Batistella Pires, Luciana Patricia Fernandes Abbade
Jazyk: English<br />Portuguese
Rok vydání: 2014
Předmět:
Zdroj: Anais Brasileiros de Dermatologia, Vol 89, Iss 2, Pp 363-364 (2014)
Druh dokumentu: article
ISSN: 0365-0596
1806-4841
DOI: 10.1590/abd1806-4841.20142806
Popis: Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.
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