title: Angiokeratoma corporis diffusum (Fabry disease).
abstract: A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. Fabry disease is an x-linked recessive disorder in which deficiency of the lysosomal enzyme alpha-galactosidase A leads to progressive accumulation of globotriaosylceramide in vital organs. The complexity and rarity of this disease mandates a multidisciplinary approach that includes initiation of enzyme replacement therapy.
authors.affiliation: Department of Dermatology, New York University School of Medicine, USA.
authors.forename: Julie K
authors.initials: JK
authors.lastname: Karen
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Hale
authors.forename: Linglei
authors.initials: L
authors.lastname: Ma
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000473:pathology*; D006801:Humans; D008297:Male; D012867:Skin / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000473:pathology*