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CASE REPORT
Year : 2020  |  Volume : 21  |  Issue : 4  |  Page : 319-322

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!


Department of Dermatology and STD, University College of Medical Sciences and GTB Hospital (University of Delhi), Delhi, India

Correspondence Address:
Dr. Archana Singal
University College of Medical Sciences and GTBH, Dilshad Garden, Delhi - 110 095
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_38_19

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Fabry's disease is a rare X-linked dermatosis, resulting from alpha-galactosidase deficiency and presents with both cutaneous (angiokeratoma, acral paresthesia, and hypohidrosis) and extracutaneous manifestations (ocular, cardiac, renal, and neurological). We report two brothers age 16 and 14 years that presented with multiple angiokeratoma in a bathing suit distribution on the trunk and the scrotum. The younger brother had acral paresthesia too. On systemic screening, ocular involvement was noted in both. Alpha-galactosidase assay in both brothers, revealed a deficiency of 19.2 nmol/h/mg (reference value <60), confirming the diagnosis of Fabry's disease. Cutaneous manifestations such as angiokeratoma and acral paraesthesia can be clues to the diagnosis of Fabry's disease. The case report is accompanied by a brief review of the literature.


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