Fabry's Disease (Angiokeratoma Corporis Diffusum)

Case Studies1 December 1965Fabry's Disease (Angiokeratoma Corporis Diffusum)Case Report on a Rare DiseaseHUGH 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 JR., M.D., F.A.C.P.HUGH DEMPSEY, M.D., F.R.C.P.(C), F.A.C.P.Search for more papers by this author, M. W. HARTLEY, PH.D.Search for more papers by this author, JOHN CARROLL, M.D.Search for more papers by this author, JOHN BALINT, M.B.Search for more papers by this author, R. E. MILLER, M.D.Search for more papers by this author, W. B. FROMMEYER JR., M.D., F.A.C.P.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-63-6-1059 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptNamed 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,...References1. FABRY J: Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch. Derm. Syph. 43: 187, 1898. CrossrefGoogle Scholar2. FESSASWINTROBECARTWRIGHT PMMEE: Angiokeratoma corporis diffusum universale (Fabry). Arch. Intern. Med. (Chicago) 95: 469, 1955. CrossrefGoogle Scholar3. PITTELKOWKIRLANDMONTGOMERY RBRRH: Polariscopic and histochemical studies in angiokeratoma corporis diffusum. Arch. Derm. (Chicago) 76: 59, 1957. 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CURRYFLEISHER HBTL: Angiokeratoma corporis diffusum—a case report. JAMA 175: 864, 1961. CrossrefMedlineGoogle Scholar11. RUITER M: Some further observations on angiokeratoma corporis diffusum. Brit. J. Derm. 69: 137, 1957. CrossrefMedlineGoogle Scholar12. COLLEYMILLERHUTTWALLACEDE WARDENER JRDLMSHJHE: The renal lesion in angiokeratoma corporis diffusum. Brit. Med. J. 1: 1266, 1958. CrossrefMedlineGoogle Scholar13. BETHUNELANDRIGANCHIPMAN JEPLCD: Angiokeratoma corporis diffusum universale (Fabry's disease) in two brothers. New Eng. J. Med. 264: 1280, 1961. CrossrefGoogle Scholar14. HENRYRALLY EWCR: The renal lesion in angiokeratoma corporis diffusum (Fabry's disease). Canad. Med. Ass. J. 89: 206, 1963. MedlineGoogle Scholar15. HODGSON-JONES IS: Angiokeratoma corporis diffusum. Proc. Roy. Soc. Med. 57: 105, 1964. CrossrefMedlineGoogle Scholar16. RHODES EL: Angiokertoma corporis diffusum. Ibid., p. 43. Google Scholar17. WACHTELMATTEI HLIR: Angiokeratoma corporis diffusum universale. Arch. Intern. Med. (Chicago) 114: 805, 1964. CrossrefMedlineGoogle Scholar18. LEDERBOSWORTH AAWC: Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis. Amer. J. Med. 38: 814, 1965. CrossrefMedlineGoogle Scholar19. WISEWALLACEJELLINEK DHJEH: Angiokeratoma corporis diffusum. A clinical study of eight affected families. Quart. J. Med. 31: 177, 1962. MedlineGoogle Scholar20. RAHMAN AN: The ocular manifestations of hereditary dystopic lipidosis. (Angiokeratoma corporis diffusum universale). Arch. Ophthal. (Chicago) 69: 708, 1963. CrossrefMedlineGoogle Scholar21. RAHMANLINDENBERG ANR: The neuropathology of hereditary dystopic lipidosis. Arch. Neurol. (Chicago) 9: 373, 1963. CrossrefMedlineGoogle Scholar22. SWEELEYKLIONSKY CCB: Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. Biol. Chem. 238: 3148, 1963. CrossrefMedlineGoogle Scholar23. HARTLEYMILLERDEMPSEYCARROLL MWREHJJF: Dysphospholipidosis in Fabry's disease: a light and electron microscopic study. Alabama J. Med. Sci. 1: 361, 1964. MedlineGoogle Scholar24. BALINTNYHANLIETMANTURNER JAWLPDA: Lipid patterns in Niemann-Pick disease. J. Lab. Clin. Med. 58: 548, 1961. MedlineGoogle Scholar25. ZAK B: A simple rapid microtechnic for serum total cholesterol. Amer. J. Clin. Path. 27: 583, 1957. CrossrefMedlineGoogle Scholar26. SPITZERBALINT HLJA: A rapid quantitative separation of phosphatidyl ethanolamine and phosphatidyl serine by column chromatography. Anal. Biochem. 5: 143, 1963. CrossrefMedlineGoogle Scholar27. BALINTSPITZERKYRIAKIDES JAHLEC: Studies of red-cell stromal lipids in Tay-Sachs disease and other lipidoses. J. Clin. Invest. 42: 1661, 1963. CrossrefMedlineGoogle Scholar28. RAHMANSIMEONEHACKELHALLHIRSCHHARRIS ANFADBPWEZJW: Angiokeratoma corporis diffusum universale (hereditary dystopic lipidosis). Trans. Ass. Amer. Physicians 74: 366, 1961. MedlineGoogle Scholar29. TERRYWEISS RDM: Studies in Tay-Sachs disease, II. Ultrastructure of the cerebrum. J. Neuropath. Exp. Neurol. 22: 18, 1963. CrossrefMedlineGoogle Scholar30. TANAKABRECHERFREDRICKSON YCDS: Cellule de la maladie de Nieman-Pick et de quelques autres lipoidoses. Nouv. Rev. Franc. Hemat. 3: 5, 1963. MedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: 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. FROMMEYERJR., M.D., F.A.C.P.Affiliations: Birmingham, AlabamaFrom the Departments of Medicine and Pathology, University of Alabama College of Medicine, Birmingham, Ala.This study was supported in part by research grants AM-08644, A-5323, HE-1725, and 2M01 FR32-03 from the U. S. Public Health Service, Bethesda, Md.Requests for reprints should be addressed to Hugh Dempsey, M.D., Department of Medicine, University of Alabama College of Medicine, Birmingham, Ala. 35233. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byUrinary mulberry bodies as a potential biomarker for early diagnosis and efficacy assessment of enzyme replacement therapy in Fabry nephropathySkelettveränderungen bei Erkrankungen des retikulohistiozytären SystemsAbnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapyPostmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathyFabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesiaOcular manifestations in Fabry disease: a survey of 32 hemizygous male patientsAngiokeratoma corporis diffusum - Fabry disease: historical review from the original description to the introduction of enzyme replacement therapyLower limb cold exposure induces pain and prolonged small fiber dysfunction in Fabry patientsShort P-R intervals and tachyarrhythmias in Fabry's diseaseCONCENTRIC LAMELLAR SPHERES IN URINE FROM A FEMALE CARRIER OF AND PATIENTS WITH FABRY'S DISEASEFabry's disease: Absence of storage as a feature of liver sinus endotheliumPeripheral hemodynamics in patients with Fabry's diseaseBiochemistry of CataractEarly renal changes in hemizygous and heterozygous patients with Fabry's diseasePulmonary involvement in Fabry's disease: A reappraisalGut Lesions in Fabry's Disease Without a RashSkelettveränderungen bei Erkrankungen des retikulohistiozytären Systems (im engeren Sinne)The heart in Fabry's diseaseULTRASTRUCTURAL PATHOLOGY OF THE TUBULES AND INTERSTITIAL TISSUEA New probably X-Linked Inherited Syndrome: Congenital Muscular Torticollis, Multiple Keloids Cryptorchidism and Renal DysplasiaCutaneous Lesions of Fabry's Disease: Glycolipid LipidosisDer Morbus Fabry als Beispiel einer erblichen LipoidspeicherkrankheitThe Hereditary Renal DiseasesAnalysis of polar lipids in the urine sedimentAngiokeratoma Corporis Diffusum (Fabry’s Disease)Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease)ON THE PATHOLOGY OF ANGIOKERATOMA CORPORIS DIFFUSUM (FABRY) 1 December 1965Volume 63, Issue 6Page: 1059-1068KeywordsBiopsyBlood plasmaChemical fractionationCholesterolElectroencephalographyElectron microscopyFabry diseaseLesionsMedical servicesResearch grants ePublished: 1 December 2008 Issue Published: 1 December 1965 PDF downloadLoading ...