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- Title
Familial angiokeratoma corporis diffusum without identified enzyme defect.
- Authors
Ying-Yi Lu; Chun-Ching Lu; Chieh-Shan Wu; Chieh-Hsin Wu
- 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.
- Subjects
ANGIOKERATOMA corporis diffusum; ENZYME deficiency; GENETIC mutation; THERAPEUTIC use of enzymes; GENETIC polymorphisms; LYSOSOMES; DISEASES
- Publication
Indian Journal of Dermatology, Venereology & Leprology, 2015, Vol 81, Issue 1, p46
- ISSN
0378-6323
- Publication type
Case Study
- DOI
10.4103/0378-6323.148568