RT Book, Section A1 Mehta, Atul B. A1 Orteu, Catherine H. A2 Goldsmith, Lowell A. A2 Katz, Stephen I. A2 Gilchrest, Barbara A. A2 Paller, Amy S. A2 Leffell, David J. A2 Wolff, Klaus SR Print(0) ID 56067899 T1 Chapter 136. Fabry Disease T2 Fitzpatrick's Dermatology in General Medicine, 8e YR 2012 FD 2012 PB The McGraw-Hill Companies PP New York, NY SN 978-0-07-166904-7 LK accessmedicine.mhmedical.com/content.aspx?aid=56067899 RD 2024/03/28 AB |PrintFabry Disease at a GlanceIncidence estimated at 1:3,200 to 1:170,000 in all ethnicities.X-linked lysosomal storage disorder.Highly penetrant in males; female heterozygotes have variable expressivity.Partial or complete deficiency of α-galactosidase A with deposition of glycosphingolipids (mostly globotriaosylceramide).Classical variants affect predominantly skin, kidneys, heart, eyes, and brain.Life expectancy shortened by 20 years in males and 15 years in females.Later onset variants: milder, predominantly single organ involvement, for example, renal or cardiac.Dermatologic manifestations: angiokeratomas, telangiectasias, “pseudoacromegalic” facies, hypo- and hyperhidrosis, lymphedema, and Raynaud's phenomenon.Light microscopy: ectatic upper dermal vessels, peripheral epidermal acanthosis, variable hyperkeratosis.Electron microscopy: intracytoplasmic electron dense vacuolar “Zebra bodies.”Treatment: symptomatic, enzyme replacement.