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Fabry disease
Afshar Ramezanpour, Abdolamir Feizi, Ramin Mohammadi,
Volume 2, Issue 1 (3-2011)
Abstract

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. 


Anderson-Fabry disease: A case report
Mahnaz Banihashemi, Fakhrozzaman Pezeshkpoor, Sahar Aziziahari, Mohammad Tohidi,
Volume 5, Issue 4 (1-2015)
Abstract

Anderson-Fabry which is also known as Fabry disease is an X-linked recessive enzyme deficiency disorder. Its clinical manifestations are caused by storage of sphingolipids in the lysosomes of the endothelial, perithelial, and smooth muscle cells, which is due to alpha galactosidase A enzyme deficiency. Its hallmark dermatological manifestation is diffuse angiokeratomas known as angiokeratoma corporis diffusum. Peripheral painful neuropathy, eye involvement, cardiovascular problems, cerebrovascular complications, and renal failure are other manifestations of Fabry disease.
Herein, we report a 22-year-old man who had been referred to a dermatology clinic for evaluation of his skin lesions. The patient had diffuse angiokeratomas, which were characteristic for Fabry disease as well as painful acral neuropathy. Histpathologic examination of one of his skin lesions was reported as angiokeratoma. Since cornea verticillata was observed in his eyes and he also suffered from sensory-neural hearing loss, he was diagnosed as a case of Fabry disease.
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