Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review
Authors:
- 7 July 2005
- journal article
- case report
- Published by Wiley in Journal of Cutaneous Pathology
- Vol. 32 (7) , 506-511
Abstract
Fucosidosis is a rare lysosomal storage disease due to α‐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.Keywords
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