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Published on: December 20, 2017
An Unusual Case of Anderson-Fabry Disease: Case Report
Alpana Mohta1, Achala Mohta2, Pramila Kumari3
1Department of Dermatology, Venereology and Leprosy, Sardar Patel Medical College, Bikaner, India.
Abstract:
Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Initially, it was believed that angiokeratoma corporis diffusum was a telltale sign of Anderson-Fabry disease; however, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. In this report, we present the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.
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