Familial angiokeratoma corporis diffusum without identified enzyme defect.
Indian J Dermatol Venereol Leprol
;
2015 Jan-Fer ; 81 (1): 46-49
Artigo
em Inglês
| IMSEAR
| ID: sea-155005
ABSTRACT
Angiokeratoma corporis diffusum is the cutaneous hallmark of several rare inherited lysosomal diseases associated with specific enzyme deficiencies in the metabolism of glycoproteins, most notably Fabry disease. These defects result in many systemic manifestations. Here, we report a rare familial case of angiokeratoma corporis diffusum that developed at puberty with no major systemic manifestations and no underlying enzyme defect or gene mutation. Familial angiokeratoma corporis diffusum without identified enzyme defect appears to be a distinct clinical entity with a benign course.
Texto completo:
DisponíveL
Índice:
IMSEAR (Sudeste Asiático)
Assunto principal:
Taiwan
/
Feminino
/
Humanos
/
Família
/
Puberdade
/
Doença de Fabry
/
Adulto
Tipo de estudo:
Estudo prognóstico
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Indian J Dermatol Venereol Leprol
Ano de publicação:
2015
Tipo de documento:
Artigo
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