HUGH DEMPSEY, M.D., F.R.C.P.(C), F.A.C.P.; M. W. HARTLEY, PH.D.; JOHN CARROLL, M.D.; JOHN BALINT, M.B.; R. E. MILLER, M.D.; W. B. FROMMEYER, M.D., F.A.C.P.
Named after the skin lesions that characterize it, this unusual clinical entity has only recently been recognized in North America. Since its original description by Fabry (1) over 65 years ago as a benign, primarily dermatological vagary, it has revealed itself to be a complex clinical syndrome of multisystem involvement, resulting in a premature death almost invariably by the fifth decade of life.
Somewhat less than 50 individuals suffering from Fabry's disease have been reported in the literature since its initial description, although frequently the same patient has been the subject of two, three, or more publications. In 1955 Fessas,
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DEMPSEY H, HARTLEY MW, CARROLL J, BALINT J, MILLER RE, FROMMEYER WB. Fabry's Disease (Angiokeratoma Corporis Diffusum): Case Report on a Rare Disease. Ann Intern Med. 1965;63:1059-1068. doi: 10.7326/0003-4819-63-6-1059
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Published: Ann Intern Med. 1965;63(6):1059-1068.
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