JPAD-Journal of Pakistan Association of Dermatologists. 2015; 25 (1): 62-65
em Inglês
| IMEMR
| ID: emr-171493
ABSTRACT
Pachyonychia congenita [PC] comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 [Jadassohn-Lewandowski syndrome] and PC-2 [Jackson-Lawler syndrome]. We hereby report a case of 22-year-old, married woman with progressive thickening and discoloration of all 20 nails, multiple, hyperkeratotic lesions present all over the body with oral lesions since childhood. She had a 2-month-old male baby [the only child] who presented with similar lesions of yellowish discoloration and nail thickening of both nails and foot since birth. She was diagnosed as PC type 1
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Ceratodermia Palmar e Plantar
/
Paquioníquia Congênita
Tipo de estudo:
Relato de Casos
Idioma:
Inglês
Revista:
J. Pak. Assoc. Dermatol.
Ano de publicação:
2015
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