title: Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease.
abstract: Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6-year-old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and retroauricular telangiectasia. Both had an absence of alpha-galactosidase. Over 6 years of observation, the older brother developed progressive renal failure and the younger one developed acrodynia and anhidrosis. Their mother had diminished alpha-galactosidase activity and several angiomatous papules on one breast. A review of Fabry disease emphasizes the need for skin inspection for angiomas and telangiectasia, and enzyme assay in patients with inexplicable complaints or findings. Carrier females are most easily recognized by the presence of unique corneal opacities.
authors.affiliation: Department of Medicine, Medical College of Ohio, Toledo 43699, USA.
authors.forename: E D
authors.initials: ED
authors.lastname: Shelley
authors.forename: W B
authors.initials: WB
authors.lastname: Shelley
authors.forename: T W
authors.initials: TW
authors.lastname: Kurczynski
mesh_terms: D000328:Adult; D001833:Body Temperature Regulation; D002648:Child; D004431:Ear, External / Q000098:blood supply; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005385:Fingers; D006801:Humans; D007007:Hypohidrosis / Q000150:complications*; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D010146:Pain / Q000150:complications*; D013684:Telangiectasis / Q000150:complications*; D000519:alpha-Galactosidase / Q000032:analysis
chemical_list: D000519:alpha-Galactosidase