Angiokeratoma corporis diffusum (Fabry disease).
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.
Karen
Julie K
JK
Department of Dermatology, New York University School of Medicine, USA.
Hale
Elizabeth K
EK
Ma
Linglei
L
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*