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Anais Brasileiros de Dermatologia

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DUARTE, Gleison Vieira  and  CUNHA, Rosângela. Do you know this syndrome?. An. Bras. Dermatol. [online]. 2011, vol.86, n.6, pp.1222-1227. ISSN 0365-0596.

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.

Keywords : Genetic variation; Keratin-17; Oligosymptomatic patients; Pachyonychia congenita.

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