Eighteen males, 17 of whom were members of a single family, affected with angiokeratoma corporis diffusum were examined in detail to determine the extent of clinical variation of the expression of what was almost certainly the same X-linked mutation in each. The commonest symptom was episodic bouts of severe, painful dysaesthesia in hands and feet. This was a major complaint of 12, a minor comp...

Introduction: Dermoscopy is a non-invasive technique that enhances visualization of morphological lesions invisible to naked eye examination and aids in clinical diagnosis. We study its role non-melanocytic skin tumors. Objectives: The purpose this was evaluate compare the dermoscopic features non-melanocyte tumors Materials Methods: A cross-sectional hospital-based including patients clinicall...

Fabry's disease (angiokeratoma corporis diffusum) joins a growing number of inherited disorders for which a specific metabolic defect has been identified. The disease, first reported in 1898, is characterized by the accumulation of a glycolipid, ceramide trihexoside, in various tissues, giving rise to characteristic skin and eye lesions, renal dysfunction, and cardioand cerebrovascular disease ...

UNLABELLED Fabry disease (FD, MIM 301500) caused by a deficient activity of alpha-galactosidase A is characterized by intralysosomal storage of glycosphingolipids. Main clinical features are paresthesia, hypohidrosis, angiokeratoma, renal insufficiency, and cardiovascular or cerebral complications. The exact pathogenesis is unclear. Beside mechanical storage biochemical factors might play a rol...

Fabry's disease is a sphingolipid storage disorder which is caused by mutations within the gene responsible for the expression of the lysosomal hydrolase, oc-galactosidase A ( 1). The enzyme defect results in the progressive deposition of uncleaved glycosphingolipids within lysosomes of endothelial, perithelial and smooth muscle cells. The major clinical features may be divided into cutaneous l...