Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review.
J Cutan Pathol
; 32(7): 506-11, 2005 Aug.
Article
em En
| MEDLINE
| ID: mdl-16008696
ABSTRACT
Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum. Electronmicroscopic examination reveals characteristic electron-lucent cytoplasmic vacuolization present in several cell types of the skin and other tissues. We present here a new patient suffering from fucosidosis with angiokeratoma, whose normal and diseased skin was studied by lightmicroscopy and electronmicroscopy. The salient clinicopathological features of this disease are briefly reviewed.
Buscar no Google
Base de dados:
MEDLINE
Assunto principal:
Pele
/
Doença de Fabry
/
Fucosidose
Idioma:
En
Ano de publicação:
2005
Tipo de documento:
Article