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Der Morbus Fabry als Beispiel einer erblichen Lipoidspeicherkrankheit

Neuere Gesichtspunkte zur Pathogenese, Klinik und Morphologie

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Zusammenfassung

Neuere biochemische und pathologischanatomische Befunde sprechen dafür, daß es sich beim Morbus Fabry um eine primäre systematische Erkrankung der gesamten glatten Muskulatur, des Herzmuskels und der vegetativen Ganglienzellen handelt. Demgegenüber sind andere, unter Umständen sehr auffallende Lipoidablagerungen, z. B. in Niere und RES als sekundär aufzufassen und durch Aufnahme des Ceramids aus dem Harn bzw. dem Blut zu erklären. Der primäre Befall bestimmter Zellsysteme wird darauf zurückgeführt, daß in ihnen das Substrat des defekten Enzyms, das Trihexose-Ceramid als Metabolit eine besondere Rolle spielt. Derartige Überlegungen können mutatis mutandis auch für die übrigen Lipidosen angewandt werden. — Der regelhafte Befall von glatter Muskulatur, Herzmuskel und vegetativem Nervensystem, sowie von den sekundären Lipoidablagerungen vor allem die Speicherung in den Nierentubuli sind verantwortlich für das klinische Bild des M. Fabry und gestatten eine einheitliche Erklärung der so vielfältigen Symptomatologie.

Summary

New biochemical and pathological findings lead to the conclusion that Fabry's disease is a primary systematic disorder of the whole smooth musculature, of the heart-muscle and of the autonomic nervecells. The sometimes most striking storage of lipid in other cellgroups, e.g. in the kidney and the reticuloendothelial system must be regarded as secondary, the ceramide there being taken out of the urine or out of the blood. The primary involvement of certain cells can be explained by the supposition that trihexoseceramide, the substratum of the defect enzyme plays an important part in the metabolism of these cells. It seems to be possible to explain the other lipidoses in a similar way. — The systematic affection of the smooth musculature, the heart-muscle and the autonomic nervesystem as well as the secondary storage, especially in the lower nephrons of the kidneys are responsible for the multiple symptoms of Fabry's disease, which can thus be considered as the result of a single basic disorder.

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Literatur

  1. Adamson, H. G.: A note on multiple small angiomata: Angiokeratoma and multiple teleangiektases. Brit. J. Derm.30, 85 (1918).

    Google Scholar 

  2. Adams, C. W. M. (ed.): Neurohistochemistry. Amsterdam-London-New York 1965.

  3. Anderson, W.: A case of “angio-keratoma”. Brit. J. Derm.10, 113–117 (1898).

    Google Scholar 

  4. Aronson, St. M., andB. W. Volk (eds.): Cerebral sphingolipidoses. A symposion on Tay-Sachs' disease and allied disorders. New York and London: Academic Press 1962.

    Google Scholar 

  5. Balogh, jr., K., u.F. Gloor: Nierenveränderungen bei der erblichen Nephropathie mit Innenohrschwerhörigkeit. Verh. dtsch. Ges. Path.49, 200 (1965).

    Google Scholar 

  6. Bass, B. H.: Angiokeratoma corporis diffusum. Brit. med. J.1958 I, 1418.

    Google Scholar 

  7. Bethune, J. E., P. L. Landrigan, andC. D. Chipman: Angiokeratoma corporis diffusum universale (Fabry's disease) in two brothers. New Engl. J. Med.264, 1280 (1961).

    Google Scholar 

  8. Borda, J. M., E. Raimondi yS. G. Stringa: Angioqueratoma corporis diffusum de Fabry y angioqueratoma escorto (Fordyce). Arch. argent. Derm.4, 176–180 (1954).

    Google Scholar 

  9. Brady, R. O., E. G. Andrew, R. M. Bradley, E. Martenson, A. L. Warshaw, andL. Laster: Enzymatic defect in Fabry's disease. Ceramidtrihexosidase deficiency. New Engl. J. Med.276, 1163–1167 (1967).

    Google Scholar 

  10. O'Brien, J. S., andM. B. Stern: Generalized gangliosidosis. Another inborn error of ganglioside metabolism? Amer. J. Dis. Child.109, 338–346 (1965).

    Google Scholar 

  11. Brown, A., andJ. Milne: Diffuse angiokeratoma: report of two cases with diffuse skin changes, one with neurological symptoms and splenomegalie. Glasg. med. J.33, 361–368 (1952).

    Google Scholar 

  12. Burda, C. D., andP. R. Winder: Angiokeratoma corporis diffusum universale (Fabry's disease) in female subjects. Amer. J. Med.42, 293–301 (1967).

    Google Scholar 

  13. Calas, E., Mafard etMathurin: A propos d'un cas d'angiokératose de Fabry. Bull. Soc. franç. Derm. Syph.64, 682–684 (1957).

    Google Scholar 

  14. Campbell, A. M., andM. E. Halford: Syndrom of diarrhoe and peripheral nerve changes due to generalized vascular disease. Brit. med. J.1964 II, 1509–1510.

    Google Scholar 

  15. Caulet, T., P. Germain, J. J. Adnet, C. Hopfner etM. Pluot: Deux cas familiaux de maladie de Fabry. Etude structurale et ultrastructurale. Ann. Anat. path.12, 49–70 (1967).

    Google Scholar 

  16. Chieregato, G.: Il primo caso di angiokeratoma diffuso (Tipo Fabry) comparso in sogetto di sesso feminile. Minerva derm.38, 229–236 (1963).

    Google Scholar 

  17. Christensen-Lou, H. O.: A biochemical investigation of Angiokeratoma corporis diffusum. Acta path. microbiol. scand.68, 332–342 (1966).

    Google Scholar 

  18. Colley, J. R., D. L. Miller, M. S. R. Hut, H. S. Wallace, andH. E. Wardener: The renal lesion in angiokeratoma corporis diffusum. Brit. med. J.1958 I, 1266–1268.

    Google Scholar 

  19. Cunningham, R. S., andL. N. Krauel: Angiokeratoma corporis diffusum universale (Fabry). Report of a case with symptomatic improvement on Meniadone. Northw. Med. (Seattle)56, 170–171 (1957).

    Google Scholar 

  20. Cury, H. B., T. L. Fleischer, andF. Howard: Angiokeratoma corporis diffusum. A case report. J. Amer. med. Ass.175, 864–868 (1961).

    Google Scholar 

  21. Danehower, C. C., andD. G. Moyer: Angiokeratoma corporis diffusum. Arch. Derm.94, 628–631 (1966).

    Google Scholar 

  22. Dempsey, H., M. W. Hartley, J. Carroll, J. Balint, R. E. Miller, andW. B. Frommeyer: Fabry's disease (angiokeratoma corporis diffusum). Ann. intern. Med.63, 1059–1068 (1965).

    Google Scholar 

  23. Dubach, U. C., u.F. Gloor: Fabry-Krankheit (Angiokeratoma corporis diffusum universale). Phosphatidspeicherkrankheit bei zwei Familien. Dtsch. med. Wschr.91, 241–245 (1966).

    Google Scholar 

  24. Duperrat, B., G. Pluvinage etGuilaine: Angiokératose diffuse de Fabry avec hémipléie. Bull. Soc. méd. Hôp. Paris72, 748–751 (1956).

    Google Scholar 

  25. Duperrat, B.: L'angiokératome diffuse de Fabry (angiokeratoma corporis diffusum). Presse méd.67, 1814–1816 (1959).

    Google Scholar 

  26. Duperrat, B., etLeturque: Un enfant avec acroparaestésies. Bull. Soc. franç. Derm. Syph.67, 875–878 (1960).

    Google Scholar 

  27. Duverne, J., R. Bonnayme etH. Volle: Angiokératose de Fabry. Bull. Soc. franç. Derm. Syph.66, 181–184 (1959).

    Google Scholar 

  28. Ende, M., andC. Peabody: Angiokeratoma corporis diffusum universale (Fabry). Virginia med. Mth.85, 192–194 (1958).

    Google Scholar 

  29. Fabry, J.: Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch. Derm. Syph. (Berl.)43, 187–200 (1898).

    Google Scholar 

  30. Fabry, J.: Über einen Fall von Angiokeratoma circumscriptum am linken Oberschenkel. Derm. Z.22, 1–4 (1915).

    Google Scholar 

  31. Fabry, J.: Zur Klinik und Ätiologie des Angiokeratoma. Arch. Derm. Syph. (Berl.)123, 294–307 (1916).

    Google Scholar 

  32. Falck, J.: Angiokeratoma corporis diffusum Fabry mit vasorenalem Symptomenkomplex. Samml. selt. klin. Fälle9, 20–31 (1955).

    Google Scholar 

  33. Falck, J., u.A. Weicksel: Angiokeratoma corporis diffusum Fabry mit vasorenalem Symptomenkomplex. Samml. selt. klin. Fälle13, 20–28 (1957).

    Google Scholar 

  34. Fessas, P., M. M. Wintrobe, andG. E. Cartwright: Angiokeratoma corporis diffusum universale (Fabry). First American report of a rare disorder. Arch. intern. Med.95, 469–481 (1955).

    Google Scholar 

  35. Fone, D. J., andW. E. King: Angiokeratoma corporis diffusum (Fabry's syndrom). Aust. Ann. Med.13, 339–348 (1964).

    Google Scholar 

  36. Frost, P., G. L. Spaeth, J. Tanaka, andBethseda: Fabry's disease: glycolipid lipidosis. Arch. intern. Med.117, 440–446 (1966).

    Google Scholar 

  37. Frost, P., J. Tanaka, andG. L. Spaeth: Fabry's disease — glycolipid lipidosis. Histochemical and electron microscopic studies of two cases. Amer. J. Med.40, 618–627 (1966).

    Google Scholar 

  38. Funck-Brentano, J. L., J. Dormont, J. Ph. Mery, H. de Montera etM. Moreira: Les lésions rénales de l'angiokératose de Fabry. J. Urol. Néphrol.70, 826–831 (1964).

    Google Scholar 

  39. Garcin, R., J. Hewitt, S. Godlewski, P. Landot, H. de Montera etJ. Emile: Les aspects neurologiques de l'angiokératose de Fabry. A propos de deux cas. Press méd.75, 435–440 (1967).

    Google Scholar 

  40. Gemmingen, G. v., R. R. Kierland, andJ. M. Opitz: Angiokeratoma corporis diffusum (Fabry's disease). Arch. Derm.91, 206–218 (1965).

    Google Scholar 

  41. Grace, E. V.: Diffuse angiokeratosis (Fabry's disease). Amer. J. Ophthal.62, 139–145 (1966).

    Google Scholar 

  42. Groot, W. P. de: Thesaurismosis hereditaria Ruiter-Pompen-Wyers (Angiokeratoma corporis diffusum Fabry). Thesis Amsterdam 1961.

  43. Groot, W. P. de: Angiokeratoma corporis diffusum Fabry (Thesaurismosis Ruiter-Pompen-Wyers). Dermatologica (Basel)128, 321–349 (1964).

    Google Scholar 

  44. Groot, W. P. de: Genetic aspects of the thesaurismosis lipoidica hereditaria Ruiter-Pompen-Wyers (angiokeratoma corporis diffusum Fabry). Dermatologica (Basel)129, 281–282 (1964).

    Google Scholar 

  45. Günther, H.: Anhidrosis und Diabetes insipidus. Z. klin. Med.78, 53–63 (1913).

    Google Scholar 

  46. Hamburger, J., J. Dormont, H. de Montera etN. Hinglais: Sur une singulaire malformation familiale de l'épithélium rénal. Schweiz. med. Wschr.94, 871–876 (1964).

    Google Scholar 

  47. Harders, W.: Angiokeratoma corporis diffusum en corneaafwijking. Ned. T. Geneesk.97, 188 (1953).

    Google Scholar 

  48. Harris, G. W., andB. T. Donovan (eds.): The pituitary gland. 3. Bde. London 1966.

  49. Hartley, M. W., andR. E. Miller: Renal and vascular changes in Fabry's disease, a dysphospholipoidosis. J. Cell Biol.19, 31A-32A (1963).

    Google Scholar 

  50. Hartley, M. W., R. E. Miller, andC. H. Lupton: Light and electron microscopy of the kidney in a case of Fabry's disease. Lab. Invest.12, 850 (1963).

    Google Scholar 

  51. Hashimoto, K., B. G. Gross, andW. F. Lever: Angiokeratoma corporis diffusum (Fabry). Histochemical and electron microscopic studies of the skin. J. invest. Derm.44, 119–128 (1965).

    Google Scholar 

  52. Head, G. D.: Multiple hemangiomas of the skin associated with dyspituitarism. Arch. intern. Med.20, 24–31 (1917).

    Google Scholar 

  53. Henry, E. W., andC. R. Rally: The renal lesions in angiokeratoma corporis diffusum. Canad. med. Ass. J.89, 206–213 (1963).

    Google Scholar 

  54. Hillborg, P. O., andL. Svennerholm: Blood levels of cerebrosides in Gaucher's disease. Acta paediat. (Stockh.)49, 707–710 (1960).

    Google Scholar 

  55. Hodgson-Jones, I. S.: Angiokeratoma corporis diffusum. Proc. roy. Soc. Med.57, 105–106 (1964).

    Google Scholar 

  56. Hofmann, A., u.W. Hauser: Angiokeratoma corporis diffusum (Fabry) mit cerebralen Manifestationen. Dtsch. Z. Nervenheilk.183, 351–362 (1962).

    Google Scholar 

  57. Hornbostel, H., W. Spier, H. Koch, u.K. Scriba: Angiokeratoma corporis diffusum Fabry mit cardio-vaso-renalem Symptomenkomplex als Allgemeinerkrankung auf dem Boden einer Thesaurismose. Hautarzt1, 183–184 (1950).

    Google Scholar 

  58. Hornbostel, H., W. Spier u.H. Koch: Angiokeratoma corporis diffusum (Fabry) mit cardio-vaso-renalem Symptomenkomplex als Allgemeinerkrankung. Ärztl. Wschr.6, 49–55 (1951).

    Google Scholar 

  59. Hornbostel, H.: Das Angiokeratoma corporis diffusum universale mit cardio-vaso-renalem Symptomenkomplex als neuartige Thesaurismoseform. Helv. med. Acta19, 388–396 (1952).

    Google Scholar 

  60. Hornbostel, H., u.K. Scriba: Zur Diagnostik des Angiokeratoma Fabry mit kardio-vaso-renalem Symptomenkomplex als Phosphatidspeicherkrankheit durch Probeexcision der Haut. Klin. Wschr.31, 68–69 (1953).

    Google Scholar 

  61. Jacob, W., W. Gahlen u.H. Diekmann: Zur Differentialdiagnose des Angiokeratoma Fabry und der Periarteriitis nodosa. Ärztl. Wschr.8, 551–554 (1953).

    Google Scholar 

  62. Jatzkewitz, H.: Über Sphingolipoidosen. 16. Colloquium der Ges. für Physiologische Chemie in Mosbach (Baden), S. 112–123. Berlin-Heidelberg-New York: Springer 1966.

    Google Scholar 

  63. Jensen, E.: On the pathologie of angiokeratoma corporis diffusum (Fabry). Acta path. microbiol. scand.68, 313–331 (1966).

    Google Scholar 

  64. Jørgensen, M. B., andB. B. Jørgensen: Angiokeratoma corporis diffusum (Fabry). Dan. med. Bull.12, 152–157 (1965).

    Google Scholar 

  65. Kahlke, W.: Angiokeratoma corporis diffusum (Fabry's disease). Lipids and lipidosis, ed.G. Schettler, S. 332–351. Berlin-Heidelberg-New York: Springer 1967.

    Google Scholar 

  66. Karr jr., W. J.: Fabry's disease (angiokeratoma corporis diffusum universale). An unusual syndrom with multisystem involvement and unique skin manifestations. Amer. J. Med.27, 829–835 (1959).

    Google Scholar 

  67. Kendall, R. F., R. C. Davidson, andJ. Pfaff: Angiokeratoma corporis diffusum. Arch. Derm.86, 328–331 (1962).

    Google Scholar 

  68. Koch, H.: Augenveränderungen beim Angiokeratoma universale Fabry. Ber. dtsch. ophthal. Ges.55, 357f. (1950).

  69. Kochs: Angiokeratoma corporis diffusum. Zbl. Haut- u. Geschl.-Kr.76, 422 (1951).

    Google Scholar 

  70. Kuske, H., u.P. Baumgartner: Demonstration. Dermatologica (Basel)124, 298–300, 313 (1962).

    Google Scholar 

  71. Lacroux, R., etJ. Laribaud: Angiokératome diffus (angiokeratoma corporis diffusum) de Fabry. Bull. Soc. franç. Derm. Syph.67, 474–478 (1960).

    Google Scholar 

  72. Lapiere, S.: Angiokeratoma corporis diffusum (Fabry). (Syndrome cardio-vaso-rénal de Ruiter-Pompen). Dermatologica (Basel)115, 572–578 (1957).

    Google Scholar 

  73. Lapiere, S.: Angiokeratoma corporis diffusum (syndrome cardio-vaso-rénal de Ruiter-Pompen). Arch. belges Derm.14, 114–115 (1958).

    Google Scholar 

  74. Leder, A. A., andW. C. Bosworth: Angiokeratoma corporis diffusum universale (Fabry's disease) with mitral stenosis. Amer. J. Med.38, 814–819 (1965).

    Google Scholar 

  75. Lilis, M., P. Vulcan, andG. Peresecenschi: Notes on a case of angiokeratoma corporis diffusum. Rum. med. Rev.20, 29–35 (1966).

    Google Scholar 

  76. Löwenstein, L. M., andL. Miller: Studies in Fabry's disease. Excerpta med., Int. Congr. Series67, 106 (1963).

    Google Scholar 

  77. Madden, J. F.: Generalized angiomatosis (teleangiektasia). J. Amer. med. Ass.102, 442–448 (1934).

    Google Scholar 

  78. Martenstein, H.: Angiokeratoma corporis diffusum bei einem 20 Jahre alten Mann. Derm. Wschr.103, 1477 (1936).

    Google Scholar 

  79. Morel-Maroger, G., P. Ganter, R. Ardaillou, G. Cathelineau etG. Richet: Etude histochimique d'une thésaurismose lipidique avec atteinte rénale, cutanée et neurologique. Ses rapports avec l'angiokératose de Fabry et la cytodystrophie rénale familiale. Bull. Soc. méd. Hôp. Paris117, 49–57 (1966).

    Google Scholar 

  80. Morel-Maroger, L., P. Ganter etD. Verger: Etude histochimique d'une thésaurismose lipidique à localisation rénale. Angiokératose de Fabry? Arch. Anat. path.14, 24–27 (1966).

    Google Scholar 

  81. McNary, W., andL. M. Löwenstein: A morphological study of the renal lesions in angiokeratoma corporis diffusum universale (Fabry's disease). J. Urol. (Baltimore)93, 641–648 (1965).

    Google Scholar 

  82. Netherton, E. W.: A case for diagnosis (demonstration). Arch. Derm. Syph. (Chic.)29, 965–966 (1934).

    Google Scholar 

  83. Opitz, J. M., F. C. Stiles, D. Wise, R. R. Race, R. Sanger, v. Gemmingen, R. Kierland, E. G. Cress, andW. P. de Groot: The genetics of angiokeratoma corporis diffusum universale (Fabry's disease) and its linkage relations with the Xg locus. Amer. J. hum. Genet.17, 325–342 (1965).

    Google Scholar 

  84. Parkinson, J. E., andA. Sunshine: Angiokeratoma corporis diffusum universale (Fabry). Presenting as suspected myocardial infarction and pulmonary infarcts. Amer. J. Med.31, 951 (1961).

    Google Scholar 

  85. Pierrini, D. O.: Angiokeratoma corporis diffusum. Arch. argent. Derm.2, 124–127 (1952).

    Google Scholar 

  86. Pittelkow, R. B., R. R. Kierland, andH. Montgomery: Angiokeratoma corporis diffusum. Arch. Derm.72, 556–561 (1955).

    Google Scholar 

  87. Pittelkow, R. B., R. R. Kierland, H. Montgomery, andR. W. Schmidt: Polariscopic and histochemical studies in angiokeratoma corporis diffusum. Arch. Derm.76, 59–63 (1957).

    Google Scholar 

  88. Pompen, A. W. M., M. Ruiter, andH. J. G. Wyers: Angiokeratoma corporis diffusum (universale) Fabry, as a sign of an unknown internal disease: two autopsy reports. Acta med. scand.128, 234–255 (1947).

    Google Scholar 

  89. Price, J. H.: Angikeratoma corporis diffusum. Brit. J. Derm. Syph.67, 105–109 (1955).

    Google Scholar 

  90. Rae, A. J., J. C. Lee, andJ. Hopper jr.: Clinical and electron microscopic studies of a case of glycolipid lipidosis (Fabry's disease). J. clin. Path.20, 21–27 (1967).

    Google Scholar 

  91. Rahmann, A. N., R. A. Simeone, D. B. Hackel, P. W. Hall, E. Z. Hirsch, andJ. W. Harris: Angiokeratoma corporis diffusum universale (Hereditary dystopic lipidosis). Trans. Ass. Amer. Phycns74, 366–375 (1961).

    Google Scholar 

  92. Rahmann, A. N.: The pathological basis of neurophysiological dysfunctions in hereditary dystopic lipidosis (Angiokeratoma corporis diffusum universale). Clin. Res.10, 393 (1962).

    Google Scholar 

  93. Rahmann, A. N., andL. Lindenberg: The neuropathology of hereditary dystopic lipidosis. Arch. Neurol. (N.Y.)9, 373–385 (1963).

    Google Scholar 

  94. Rahmann, A. N.: The ocular manifestations of hereditary dystopic lipidosis (angiokeratoma corporis diffusum universale). Arch. Ophthal.69, 708–716 (1963).

    Google Scholar 

  95. Roey, A., andW. Willems: Angiokeratoma corporis diffusum van Fabry. Arch. belges Derm.17, 325–327 (1961).

    Google Scholar 

  96. Ruiter, M., u.A. W. M. Pompen: Angiokeratoma corporis diffusum universale mit cardio-vaso-renalem Symptomenkomplex bei drei Brüdern. Arch. Dermat. Syph. (Berl.)179, 165–172 (1939).

    Google Scholar 

  97. Ruiter, M.: Angiokeratoma corporis diffusum (universale) als symptoom von een onbekende en nog niet beschreven inwendige ziekte. Ned. T. Geneesk.4, 1757–1759 (1946).

    Google Scholar 

  98. Ruiter, M., A. W. M. Pompen u.H. J. G. Wyers: Über interne und pathologischanatomische Befunde bei Angiokeratoma corporis diffusum (Fabry). Dermatologica (Basel)94, 1–12 (1947).

    Google Scholar 

  99. Ruiter, M.: Angiokeratoma corporis diffusum (universale) Fabry als Symptom einer Phosphatidspeicherungskrankheit. Hautarzt3, 557–559 (1952).

    Google Scholar 

  100. Ruiter, M.: Angiokeratoma corporis diffusum. Arch. Derm. Syph. (Chic.)68, 21–27 (1953).

    Google Scholar 

  101. Ruiter, M.: Histological investigations of the skin in angiokeratoma corporis diffusum in particular with regard to the associated disturbance of phosphatid metabolism. Dermatologica (Basel)109, 273–286 (1954).

    Google Scholar 

  102. Ruiter, M.: Angiokeratoma corporis diffusum: einige weitere Beobachtungen. Arch. Derm. Syph. (Berl.)206, 205–209 (1957).

    Google Scholar 

  103. Ruiter, M.: Angiokeratoma corporis diffusum: einige weitere Beobachtungen. Dtsch. Derm. Ges. Zbl. Haut- u. Geschl.-Kr.97, 126 (1957).

    Google Scholar 

  104. Ruiter, M.: Some further observations on angiokeratoma corporis diffusum. Brit. J. Derm.69, 137–144 (1957).

    Google Scholar 

  105. Ruiter, M.: Das Angiokeratoma corporis diffusum-Syndrom und seine Hauterscheinungen. Übersicht und eigene Erfahrungen der letzten zehn Jahre. Hautarzt9, 15–19 (1958).

    Google Scholar 

  106. Salamon, T., O. Lazović u.R. Zec: Syndroma Angiokeratoma corporis diffusum (Serbisch). Srpski Arkh. Tselok. Lek.92, 559–566 (1964).

    Google Scholar 

  107. Schettler, G. (ed): Lipids and lipidoses. Berlin-Heidelberg-New York: Springer 1967.

    Google Scholar 

  108. Schutt, D. A., W. M. Lukash, andV. J. Hyams: Angiokeratoma corporis diffusum with scrotal and testicular involvement. Milit. Med.129, 823–826 (1964).

    Google Scholar 

  109. Scriba, K.: Zur Pathogenesc des Angiokeratoma corporis diffusum Fabry mit kardio-vaso-renalem Symptomenkomplex. Verh. dtsch. path. Ges.34, 221–226 (1951).

    Google Scholar 

  110. Sibley, W. K.: Case for diagnosis (demonstration). Brit. J. Derm.30, 109–112 (1918).

    Google Scholar 

  111. Siguier, F., B. Duperrat, C. Betourne etH. Hanaut: Angiokératose de Fabry, expréssion cutanée d'une maladie génerale, nouvellement individualisée. Bull. Soc. méd. Hôp. Paris72, 291–300 (1956).

    Google Scholar 

  112. Spaeth, G. L., andP. Frost: Fabry's disease. Its ocular manifestations. Arch. Ophthal.74, 760–769 (1965).

    Google Scholar 

  113. Steiner, L., u.H. Vörner: Angiomatosis miliaris. „Eine idiopathische Gefäßerkrankung.“ Dtsch. Arch. klin. Med.96, 105–116 (1909).

    Google Scholar 

  114. Stoughton, R. B., andW. E. Clendenning: Angiokeratoma corporis diffusum (Fabry). Arch. Derm.79, 601–602 (1959).

    Google Scholar 

  115. Stümpke, G.: Ein Fall von Angiokeratoma corporis diffusum. Arch. Derm. Syph. (Basel.)121, 291–295 (1916).

    Google Scholar 

  116. Svennerholm, E., andL. Svennerholm: Neutral glycolipids of human blood serum, spleen and liver. Nature (Lond.)198, 688–689 (1963).

    Google Scholar 

  117. Sweely, C. C., andB. Klionsky: Fabry's disease. Classification as a sphingolipidosis and partial characterization of a novel glycolipid. J. biol. Chem.238, 3148–3150 (1963).

    Google Scholar 

  118. Taguchi, Y.: Über den ersten Fall von Angiokeratoma corporis diffusum in Japan. Derm. Wschr.107, 1281–1284 (1938).

    Google Scholar 

  119. Tanaka, Y., H. Frost etG. L. Spaeth: Figures myeliniques dans les cellules spumeuses de la maladie de Fabry. Nouv. Rev. franç. Hémat.5, 425–430 (1965).

    Google Scholar 

  120. Thannhauser, S. J.: Lipidoses. Disease of the intracellular lipid metabolism, 3. Aufl. New York and London 1958.

  121. Traub, andTolmach: Angiokeratoma. Comprehensive study of the literature and report of a case. Arch. Derm. Syph. (Chic.)24, 39–54 (1931).

    Google Scholar 

  122. Tuma, J., u.K. Halacka: Angiokeratoma corporis diffusum. Ref. in Zbl. Derm.62, 214 (1939).

    Google Scholar 

  123. Vineyard, W. R., andE. J. Kamin: Angiokeratoma corporis diffusum. Arch. Derm.82, 817–819 (1960).

    Google Scholar 

  124. Volavsek: Angiokeratoma corporis diffusum (Fabry); Demonstration. Derm. Wschr.111, 800 (1940).

    Google Scholar 

  125. Vorster, K.: Fabry-Syndrom. Münch. med. Wschr.106, 1402–1405 (1964).

    Google Scholar 

  126. Wachtel, H. L., andJ. R. Mattei: Angiokeratoma corporis diffusum universale. Arch. intern. Med.114, 805–811 (1964).

    Google Scholar 

  127. Wallace, H. J.: Angiokeratoma corporis diffusum. Brit. J. Derm.70, 354–360 (1958).

    Google Scholar 

  128. Wallace, H. J.: Angiokeratoma corporis diffusum. Bull. Soc. franç. Derm. Syph.65, 348–357 (1958).

    Google Scholar 

  129. Wallace, R. D., andW. J. Cooper: Angiokeratoma corporis diffusum universale (Fabry). Amer. J. Med.39, 656–661 (1965).

    Google Scholar 

  130. Weicksel, J.: Angiomatosis bzw. Angiokeratosis universalis (eine sehr seltene Haut- und Gefäßerkrankung). Dtsch. med. Wschr.51, 898–900 (1925).

    Google Scholar 

  131. Whalen, E. R., S. Huang, E. Peschel, andH. D. McIntosh: Hereditary nephropathie, deafness and renal foam cells. Amer. J. Med.31, 171–186 (1961).

    Google Scholar 

  132. Williams, D. I.: Angiokeratoma corporis diffusum. Proc. roy. Soc. Med.57, 43–44 (1964).

    Google Scholar 

  133. Wise, D., H. J. Wallace, andE. H. Jellinek: Angiokeratoma corporis diffusum. Quart. J. Med.31, 177–206 (1962).

    Google Scholar 

  134. Wise, D.: Diffuse angiokeratoma (F. Fabry). Handbuch der Haut- und Geschlechtskrankheiten, Bd. 7, S. 743–749. Berlin-Heidelberg-New York: Springer 1966.

    Google Scholar 

  135. Witschel, H., u.W. Meyer: Morbus Fabry. Klinische und pathologisch-anatomische Untersuchungen eines Falles. Klin. Wschr. im Druck.

  136. Wyers, H. J. G., R. J. Brugge, C. A. Pompen u.P. M. Pijpers: Histologische Aspecten bij de ziekte van Fabry (angiokeratoma corporis diffusum). Ned. T. Geneesk.109, 548–560 (1965).

    Google Scholar 

  137. Yu Kuang Yuan: Angiokeratoma corporis diffusum universale (Fabry). Report of a case with lipoiduria. Chin. med. J.74, 478–488 (1956).

    Google Scholar 

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  1. Pathologisches Institut und Medizinische Poliklinik der Universität Würzburg, Germany

    H. Witschel & W. Meyer

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Witschel, H., Meyer, W. Der Morbus Fabry als Beispiel einer erblichen Lipoidspeicherkrankheit. Klin Wochenschr 46, 72–76 (1968). https://doi.org/10.1007/BF01747471

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