بیماری فابری

Fabry disease is a X-linked lysosomal storage disorder due to alpha galactosidase A deficiency leading to abnormal accumulation of glycosphingolipids in different parts of body. This case report introduces a 35-year-old man with diffuse keratotic erythematous papules. Histopathological evaluation of the skin biopsy suggested the diagnosis of angiokeratoma. With attention to his nephropathy and the same skin lesions and renal involvement in his brother, which led him to receive renal transplantation, the diagnosis of Fabry disease was suggested.