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 CASE REPORT
Year : 2015  |  Volume : 81  |  Issue : 1  |  Page : 46--49

Familial angiokeratoma corporis diffusum without identified enzyme defect


1 Department of Dermatology, Kaohsiung Veterans General Hospital, Kaohsiung, Taiwan
2 Faculty of Medicine, School of Medicine, National Yang-Ming University, Taipei, Taiwan
3 Division of Neurosurgery, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

Correspondence Address:
Dr. Chieh-Hsin Wu
No. 100, Tzyou 1st Road, Kaohsiung City 807
Taiwan
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.148568

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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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Online since 15th March '04
Published by Wolters Kluwer - Medknow