title: Cutaneous complications of Anderson-Fabry disease.
abstract: Anderson-Fabry disease is an X-linked lysosomal storage disorder caused by a defect in the α-galactosidase A gene, which leads to the deficiency of the hydrolytic enzyme α-galactosidase A. The consequent inability to catabolize glycosphingolipids causes progressive accumulation of globotriaosylceramide in the vascular endothelium throughout the body. Fatalities in the classical phenotype may usually occur as a consequence of cerebral, cardiac or renal disease. Dermatological manifestations are a relevant feature of Fabry disease and include angiokeratomas, telangiectasiae, lymphedema, anhidrosis or hypohidrosis and pseudo-acromegalic facial appearance. The actual causal treatment for Fabry disease is the enzyme replacement therapy. Dermatologists have a key role, since cutaneous manifestations may lead to the diagnosis. This may help an early therapeutic intervention, reducing both morbidity and mortality.
authors: Department of Dermatology, University of Palermo, Via del Vespro 131, 90123 Palermo, Italy. mariarita.bongiorno@unipa.it.
authors: Pistone
authors: P
authors: Giuseppe
authors: Rizzo
authors: R
authors: Daniele
authors: Bongiorno Maria
authors: BM
authors: Rita
mesh_terms: D000367:Age Factors; D000794:Angiokeratoma / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism / Q000628:therapy; D005260:Female; D006801:Humans; D008297:Male; D012727:Sex Characteristics; D012867:Skin / Q000098:blood supply / Q000201:enzymology / Q000473:pathology; D012878:Skin Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism / Q000628:therapy; D000519:alpha-Galactosidase / Q000008:administration & dosage / Q000378:metabolism* / Q000627:therapeutic use
chemical_list: D000519:alpha-Galactosidase