A Case of Pachyonychia Congenita / 대한피부과학회지
Korean Journal of Dermatology
; : 1372-1374, 2004.
Article
em Ko
| WPRIM
| ID: wpr-111279
Biblioteca responsável:
WPRO
ABSTRACT
Pachyonychia congenita is an uncommon genodermatosis of abnormal keratinization characterized by dystrophic nails and hyperkeratosis of the palms, soles, oral mucosa, and hair follicles. Mutations in keratin 6, 16, and 17 have been identified in a number of families. The 4 major features of the syndrome are onychogryphosis, palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Treatment is only palliative, however, with attempts directed at improving symptoms that cause significant disability. We report a case of pachyonychia congenita in a 5-day-newborn with characteristic changes of nail, palms, soles, and oral mucosa.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Leucoplasia Oral
/
Ceratodermia Palmar e Plantar
/
Folículo Piloso
/
Paquioníquia Congênita
/
Queratina-6
/
Mucosa Bucal
/
Unhas Malformadas
Limite:
Humans
Idioma:
Ko
Revista:
Korean Journal of Dermatology
Ano de publicação:
2004
Tipo de documento:
Article