Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.
Br J Dermatol
; 147(4): 760-4, 2002 Oct.
Article
em En
| MEDLINE
| ID: mdl-12366426
ABSTRACT
Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients of non-Finnish origin. To date, only three patients with AGU have been reported with cutaneous lesions of ACD. A 19-year-old Spanish woman presented with a 10-year history of progressive ACD affecting the limbs, buttocks and trunk. After the age of 6 years she had developed progressive mental deterioration, coarse facies and macroglossia with a scrotal appearance. Peripheral blood smears showed many vacuolated lymphocytes. Enzyme analysis in cultured fibroblasts revealed a decreased activity of aspartylglucosaminidase. By the age of 31 years the patient had developed a bipolar psychosis, polycystic ovarian disease and severe impairment of cognitive skills. This is the first case of AGU detected in a Spanish patient presenting with cutaneous lesions of ACD. To our knowledge, macroglossia with a scrotal appearance and polycystic ovarian disease have not been reported in previous cases of AGU.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Acetilglucosamina
/
Dermatopatias Genéticas
/
Doença de Fabry
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Adult
/
Female
/
Humans
Idioma:
En
Revista:
Br J Dermatol
Ano de publicação:
2002
Tipo de documento:
Article
País de afiliação:
Espanha