Familial angiokeratoma corporis diffusum without identified enzyme defect.

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dc.contributor.authorLu, Ying-Yi
dc.contributor.authorLu, Chun-Ching
dc.contributor.authorWu, Chieh-Shan
dc.contributor.authorWu, Chieh-Hsin
dc.date.accessioned2015-01-12T05:34:11Z
dc.date.available2015-01-12T05:34:11Z
dc.date.issued2015-01
dc.description.abstractAngiokeratoma 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.en_US
dc.identifier.citationLu 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/155005
dc.language.isoenen_US
dc.source.urihttps://www.ijdvl.com/article.asp?issn=0378-6323;year=2015;volume=81;issue=1;spage=46;epage=49;aulast=Luen_US
dc.subjectAngiokeratoma corporis diffusumen_US
dc.subjectfabry diseaseen_US
dc.subjectfamilialen_US
dc.subject.meshAdult
dc.subject.meshFabry Disease --diagnosis
dc.subject.meshFabry Disease --epidemiology
dc.subject.meshFabry Disease --ethnology
dc.subject.meshFabry Disease --etiology
dc.subject.meshFabry Disease --genetics
dc.subject.meshFabry Disease --pathology
dc.subject.meshFamily
dc.subject.meshFemale
dc.subject.meshHumans
dc.subject.meshPuberty
dc.subject.meshTaiwan
dc.titleFamilial angiokeratoma corporis diffusum without identified enzyme defect.en_US
dc.typeArticleen_US
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