title: Familial angiokeratoma corporis diffusum without identified enzyme defect.
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.
authors.forename: Ying-Yi
authors.initials: YY
authors.lastname: Lu
authors.forename: Chun-Ching
authors.initials: CC
authors.lastname: Lu
authors.forename: Chieh-Shan
authors.initials: CS
authors.lastname: Wu
authors.affiliation: 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.
authors.forename: Chieh-Hsin
authors.initials: CH
authors.lastname: Wu
mesh_terms: D000328:Adult; D002081:Buttocks; D000795:Fabry Disease / Q000201:enzymology* / Q000473:pathology*; D005260:Female; D006801:Humans; D055815:Young Adult