Familial angiokeratoma corporis diffusum without identified enzyme defect.
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Date
2015-01
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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.
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Keywords
Angiokeratoma corporis diffusum, fabry disease, familial
Citation
Lu Ying-Yi, Lu Chun-Ching, Wu Chieh-Shan, Wu Chieh-Hsin. Familial angiokeratoma corporis diffusum without identified enzyme defect. Indian Journal of Dermatology, Venereology and Leprology. 2015 Jan-Fer ; 81 (1): 46-49.