Angiokeratoma corporis diffusum − a rare case report

Abstract

We report a case of a 22-year-old male patient with angiokeratoma corporis diffusum, which is a cutaneous feature of many lysosomal storage disorders, but we diagnosed it as Fabry disease (FD) as our patient had normal intelligence associated with coarse facies, acroparesthesia, ocular changes like dilated vessels in conjunctiva, and presence of vacuolated endothelial cells in histopathological examination. It is an X-linked inborn error of the glycosphingolipid metabolic pathway that is associated with protean manifestations and is a paradigm of a multi-system condition with symptoms expressing themselves in many organs. We report this rare case mainly to stress the importance of proper clinical evaluation in the diagnosis of FD in today’s era of costly investigations like enzyme assay, which is not feasible in our setting. It also shows the importance of proper dermatological assessment, which has a highly positive predictive value in terms of assessing systemic morbidity in FD.