OBJECTIVE To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein. MATERIAL AND METHOD Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clinical history, physical examination, leukocyte enzyme ac...

Fabry disease (angiokeratoma corporis diffusum universale) is a rare, progressive, X-linked lysosomal storage disease. Deficiency of the α-galactosidase A (α-gal A) enzyme leads to accumulation of neutral glycosphingolipids within vascular endothelial lysosomes of various organs, including skin, kidneys, heart, and brain (1). We herein describe the case of a 30-year-old female presenting two cl...

The diagnosis in males can usually be made on the skin lesions, the numerous dark red macules and papules, appearing in the second decade. Severe pain in the hands and feet, increasing in heat and cold, is the first serious complaint. At a later stage the vascular anomalies in the heart and kidneys become a prominent feature. Renal failure is the usual cause of death, which occurs in the fifth ...

Eccrine angiokeratomatous hamartoma is a rare newly defined vascular lesion of the skin, the first case of which was reported in 2006 (Kanitakis J, Ly A, Claudy A. Eccrine angiokeratomatous hamartoma: a new variant of eccrine hamartoma with angiokeratoma. J Am Acad Dermatol 2006; 55: S104-6). On web Literature Search, Only three previously documented cases of the lesions were found. A 1.5-year-...