TY - CHAP M1 - Book, Section TI - Chapter 136. Fabry Disease 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 Y1 - 2012 N1 - T2 - Fitzpatrick's Dermatology in General Medicine, 8e 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. SN - PB - The McGraw-Hill Companies CY - New York, NY Y2 - 2024/11/09 UR - accessmedicine.mhmedical.com/content.aspx?aid=56067899 ER -