TY - CHAP M1 - Book, Section TI - Fabry Disease A1 - Mehta, Atul B. A1 - Orteu, Catherine H. A2 - Kang, Sewon A2 - Amagai, Masayuki A2 - Bruckner, Anna L. A2 - Enk, Alexander H. A2 - Margolis, David J. A2 - McMichael, Amy J. A2 - Orringer, Jeffrey S. Y1 - 2019 N1 - T2 - Fitzpatrick's Dermatology, 9e AB - AT-A-GLANCEIncidence estimated at 1:3200 to 1:170,000 population 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 are milder and predominantly involve a single organ (eg, renal or cardiac).Dermatologic manifestations include angiokeratoma, telangiectases, “pseudoacromegalic” facies, hypohidrosis and hyperhidrosis, lymphoedema, and Raynaud phenomenon.Light microscopy shows ectatic upper dermal vessels, peripheral epidermal acanthosis, and variable hyperkeratosis.Electron microscopy shows intracytoplasmic, electron-dense, vacuolar “Zebra bodies.”Treatment is symptomatic, enzyme replacement; chaperone therapy (for amenable mutations). SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/28 UR - accessmedicine.mhmedical.com/content.aspx?aid=1161338742 ER -