familial angiokeratoma corporis diffusum without identified enzyme defect

Clicks: 181
ID: 192627
2015
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Ranked #78 of 318 articles by views in crystallization of organic compounds: an industrial perspective

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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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lu2015indianfamilial Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Ying-Yi Lu;Chun-Ching Lu;Chieh-Shan Wu;Chieh-Hsin Wu
Journal crystallization of organic compounds: an industrial perspective
Year 2015
DOI
10.4103/0378-6323.148568
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