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

Abstract

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.

Keywords

• alpha-galactosidase a
• angiokeratoma corporis diffusum
• dermoscopy
• fabry's disease
• genodermatosis
• lysosomal storage disease