JPAD-Journal of Pakistan Association of Dermatologists. 2010; 20 (1): 45-49
em Inglês
| IMEMR
| ID: emr-129424
ABSTRACT
Kindler syndrome is a rare autosomal recessive disorder characterized by congenital blistering and photosensitivity combined with progressive poikiloderma and cutaneous atrophy. The genetic defect has been localized to chromosome 20 and the syndrome results due to mutations in the KIND 1 gene. We report the case of a 12-year-old boy with classical features of blistering since infancy, progressive poikiloderma, photosensitivity and characteristic atrophic cigarette paper-like appearance of the skin. In addition he had florid scabies with quite a few burrows on palms and in finger webs and numerous popular and pustular lesions on trunk and genitalia
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Índice:
IMEMR (Mediterrâneo Oriental)
Assunto principal:
Transtornos de Fotossensibilidade
/
Escabiose
/
Vesícula
Tipo de estudo:
Relato de Casos
Limite:
Humanos
/
Masculino
Idioma:
Inglês
Revista:
J. Pak. Assoc. Dermatol.
Ano de publicação:
2010
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