| Literature DB >> 22281922 |
Gleison Vieira Duarte1, Rosângela Cunha.
Abstract
Pachyonychia Congenita is a rare genodermatosis of keratinization, first described in 1906 by Jadassohn and Lewandowsky. Besides not being well known, phenotypic variability and oligosymptomatic subtypes make the diagnosis difficult. We report a family with three generations affected, until recently not diagnosed. The active search for familial cases in patients with suspicious manifestations and identification of peculiar characteristics of its subtypes, as multiplex steatocystoma, provide early clinical diagnosis. In addition, nurture the family counseling and informations about prognosis.Entities:
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Year: 2011 PMID: 22281922 DOI: 10.1590/s0365-05962011000600032
Source DB: PubMed Journal: An Bras Dermatol ISSN: 0365-0596 Impact factor: 1.896