Familial angiokeratoma corporis diffusum without identified enzyme defect.
Indian J Dermatol Venereol Leprol
;
2015 Jan-Fer ; 81 (1): 46-49
Artículo
en Inglés
| 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:
Disponible
Índice:
IMSEAR (Asia Sudoriental)
Asunto principal:
Taiwán
/
Femenino
/
Humanos
/
Familia
/
Pubertad
/
Enfermedad de Fabry
/
Adulto
Tipo de estudio:
Estudio pronóstico
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Indian J Dermatol Venereol Leprol
Año:
2015
Tipo del documento:
Artículo
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