| Literature DB >> 16403380 |
Julie K Karen1, Elizabeth K Hale, Linglei Ma.
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.Entities:
Mesh:
Year: 2005 PMID: 16403380
Source DB: PubMed Journal: Dermatol Online J ISSN: 1087-2108