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An unusual case of Anderson Fabry disease
Dr Alpana Mohta;
Achala Mohta;
Pramila Kumari
ABSTRACT
Angiokeratoma is a group of capillary malformations characterized by the formation of variably sized dark red hyperkeratotic papules. Although initially it was believed that angiokeratoma corporis diffusum is a tell-tale sign of Anderson Fabry disease, current consensus states that it is also seen in various other lysosomal enzymatic deficiencies. Herein, we report the case of a 12-year-old boy who developed angiokeratoma corporis diffusum with sensorineural deafness, acroparesthesias, and renal involvement.
Citation
Please cite as:
Mohta DA, Mohta A, Kumari P
An Unusual Case of Anderson-Fabry Disease: Case Report
