Pseudoxanthoma elasticum — Groenblad-Strandberg-Syndrom — Elastorrhexis systematisata. Eine Literaturanalyse

  • Sylvia B. Stutz
  • W. Schmid

Zusammenfassung

1974 postulierte Pope eine klinisch-genetische Einteilung des Pseudoxanthoma elasticum (PXE) in 2 autosomal-dominant und 2 autosomal-recessiv vererbte Typen. Wir machten zwei Beobachtungen von PXE, die weder die Charakteristika der einen noch der anderen Typen aufwiesen. Ferner fiel uns auf, daß das klinische Bild innerhalb einer Familie z.T. Unterschiede aufweist, und nicht alle betroffenen Familienmitglieder dem gleichen Typ nach Pope zugeordnet werden konnten. Dies veranlaßte uns, anhand der Literatur diese Einteilung zu überprüfen. Wir fanden Familien mit eindeutig autosomal-dominantem und solche mit autosomal-recessivem Erbgang, die je eine mono-, bioder trisymptomatische Beteiligung von Haut, Augen und kardiovasculärem System aufwiesen. Intrafamiliär zeigten sich oft Expressivitäts-schwankungen und Pleiotropie. Die Vierteilung des Krankheitsbildes nach genetischen und und klinischen Gesichtspunkten scheint uns deshalb nicht gerechtfertigt.

Summary

In 1974 Pope divided the Pseudoxanthoma elasticum (PXE) into 2 autosomal-dominant and 2 autosomal-recessive types using clinical and genetical criteria. Although we observed two cases with PXE, which did not show the characteristics of any of these types. Furthermore we remarked differences of the clinical aspects within one family, so that it was impossible to classify all the family members showing PXE into the schema described by Pope. For that reason we checked the existing classification by reviewing the literature. As result we found families with clearly autosomal-dominant and such with clearly autosomal-recessive inheritance with mono-, bior trisymptomatical involvement of the skin, eyes and cardiovascular system. There were often differences in expression and pleiotropia within the same family. Therefore we cannot justify the subdivision of PXE into four parts according genetical and clinical aspects.

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Literatur

  1. 1).
    Altmann, L K, Fialkow, P J, Parker, FPJ, Sagebiel, R W: Pseudoxanthoma elasticum an underdiagnosed genetically heterogenous disorder with protean manifestations. Arch, intern. Med. 134, 1048 (1974).CrossRefGoogle Scholar
  2. 2).
    Balzer, F: Récherches sur les caractères anatomiques du xanthelasma. Arch. Physiol. 4 (Ser. 3), 65 (1884).Google Scholar
  3. 3).
    Benedict, W L, Montgomery, H: Pseudoxanthoma elasticum and angioid streaks. Amer. J. Ophthal. 18, 205 (1935).Google Scholar
  4. 4).
    Berlyne, G M, Bulmer, H G, Platt, R: The genetics of pseudoxanthoma elasticum, Quart. J. Med. 30, 201 (1961).Google Scholar
  5. 5).
    Bork, K: Pseudoxanthoma elasticum. In: Dermatologie in Praxis und Klinik, hrsg. von Körting, G W, Thieme 1979, 35. 1–35.7.Google Scholar
  6. 6).
    Butterworth, T, Ladda, R L: Clinical Genodermatology, Vol. 1, 280, Praeger Publishers, New York 1981.Google Scholar
  7. 7).
    Cahill, J B: Pseudoxanthoma elasticum. Aust. J. Derm. 4, 2.8 (1957).Google Scholar
  8. 8).
    Capusan, I, Fazaks, J, Gherman, E, Pop, O, Precup, C, Schwarz, M: Elastorrhexie systématisée et ostéopétrose d’Albers-Schönberg. Ann. Derm. (Paris) 89, 142 (1962).Google Scholar
  9. 9).
    Carlborg, U: Study of circulatory disturbances, pulse wave velocity and pressure pulses in larger arteries in cases of pseudoxanthoma elasticum and angioid streaks; a contribution to the knowledge of the function of the elastic tissue and the smooth muscles in larger arteries. Acta med. scand., Supp. 151, 1 (1944).Google Scholar
  10. 10).
    Carr, R E, Noble, K G: Angioid streaks. Ophthalmology (Rochester) 87 (3), 263 (1980).Google Scholar
  11. 11).
    Cocco, A E, Grayer, D I, Walker, B A, Marryn, L J: The stomach in pseudoxanthoma elasticum. JAMA 210, 2381 (1969).CrossRefPubMedGoogle Scholar
  12. 12).
    Coffman, J D, Sommers, S C: Familial pseudoxanthoma elasticum and valvular heart disease. Circulation 19, 242 (1959).PubMedGoogle Scholar
  13. 13).
    Collier, M M: Elastorrhexie systématisée et dystrophies cornéennes chez deux soeurs. Bull. Soc. Ophtal. Fr. 65, 301 (1965).Google Scholar
  14. 14).
    Connor, P J, Juergens, J L, Perry, H O, Hollenhorst, R W, Edwards, J E: Pseudoxanthoma elasticum and angioid streaks, a review of 106 cases. Amer. J. Med. 30, 537 (1961).CrossRefPubMedGoogle Scholar
  15. 15).
    Cunningham, J R, Lippman, S M, Renie, W A, Francomano, CA, Maumenee, I H, Pyeritz, R E: Pseudoxanthoma elasticum: treatment of gastrointestinal hemorrhage by arterial embolization and observations on autosomal dominant inheritance. Johns Hopkins Med. J. 147 (4), 168 (1980).PubMedGoogle Scholar
  16. 16).
    Darier, J: Pseudoxanthoma elasticum. Mschr. prakt. Derm. 23, 609 (1896).Google Scholar
  17. 17).
    Degos, R: Dermatologie: Flammarion Médecine-Sciences, Paris (1973).Google Scholar
  18. 18).
    Der Kaloustian, V M, Kurban, A K: Genetic diseases of the skin. Springer Verlag (1979).Google Scholar
  19. 19).
    Dixon, J M: Angioid streaks and pseudoxanthoma elasticum with aneurysm of the internal carotid artery. Amer. J. Ophthal. 34, 1322 (1951).Google Scholar
  20. 20).
    Dymock, R B: Pseudoxanthoma elasticum: report of a case with renovascular hypertension, Aust. J. Derm. 20, 82 (1979).Google Scholar
  21. 21).
    Engelman, M W, FliegeIman, M T: Pseudoxanthoma elasticum. Cutis 21, 837 (1978).PubMedGoogle Scholar
  22. 22).
    Erbakan, S: Groenblad-Strandberg syndrome. Report of two cases in which macular degeneration occurred before angioid streaks. Amer. J. Ophthal. 51, 704 (1961).PubMedGoogle Scholar
  23. 23).
    Farreras-Valenti, P, Rozman, C, Jurado-Grau, J, del Rio, G, Elizalde, C: Groenblad-Strandberg-Touraine syndrome with systemic hypertension due to unilateral renal angioma; cure of hypertension after nephrectomy. Amer. J. Med. 39, 365 (1965).CrossRefGoogle Scholar
  24. 24).
    Flatley, F J, Atwell, M E, McEvoy, R K: Pseudoxanthoma elasticum with gastric hemorrhage. Arch, intern. Med. 112, 352 (1963).Google Scholar
  25. 25).
    Franceschetti, A, Roulet, E L: Le syndrome de Groenblad et Strandberg (striés angioïdes de la rétine et Pseudoxanthome élastique) et ses rapport avec les affections du mésenchyme. Arch. Ophtal. (Paris) 53, 401 (1936).Google Scholar
  26. 26).
    François, J: L’hérédité en ophtalmologie. Masson et Cie. Paris 794 (1958).Google Scholar
  27. 27).
    Freudenthal, W: Pseudoxanthoma elasticum (Darier). In: Handbuch Haut- und Geschlechtskrankheiten von J. Jadassohn. Bd IV, Teil 3, Springer Verlag, Berlin, 475 (1932).Google Scholar
  28. 28).
    Gills, J P, Paton, D: Mottled fundus oculi in pseudoxanthoma elasticum. Arch. Ophthal. 73, 792 (1965).PubMedGoogle Scholar
  29. 29).
    Goodman, R M, Smith, E W, Paton, D, Bergman, R A, Siegel, C L, Ottesen, O E, Shelley, W M, Pusch, A L, McKusick, VA: Pseudoxanthoma elasticum, a clinical and histopathological study. Medicine 42, 297 (1963).CrossRefPubMedGoogle Scholar
  30. 30).
    Goodman, R M: Genetic disorders of man. Little Brown and comp. Boston, 344 (1970).Google Scholar
  31. 31).
    Groenblad, E: Angioid streaks-Pseudoxanthoma elasticum. Acta Ophthal. 7, 329 (1929).CrossRefGoogle Scholar
  32. 32).
    Hagedorn, A: Angioid streaks. Arch. Ophthal. 21, 746 (1939).Google Scholar
  33. 33).
    Hannay, P W: Some clinical and histopathological notes on pseudoxanthoma elasticum. Brit. J. Derm. 63, 92 (1951).CrossRefPubMedGoogle Scholar
  34. 34).
    Härtung, H: Über familiäre angioide Pigmentstreifenbildung des Augenhintergrundes. Klin. Mbl. Augenheilk. 88, 43 (1932).Google Scholar
  35. 35).
    Heaton, R K, Vogt, A T, Neidner, K H, Reeve, E B: Neuropsychological findings with pseudoxanthoma elasticum. Acta med. scand. 20, 215 (1978).Google Scholar
  36. 36).
    Heuck: Fall von Pseudoxanthoma elasticum. Münch, dermatol. Ges., Sitzg. v. 7.VII.1921. Ref. Zbl. Hautkrkh. 2, 254 (1921).Google Scholar
  37. 37).
    Hermann, H: Das Groenblad-Strandberg-Syndrom in erbbiologischer Betrachtung. Z. Haut- u. Geschl.-Kr. 20, 314 (1956).Google Scholar
  38. 38).
    Hollwich, F: Augenheilkunde. Ein kurzgefaßtes Lehrbuch. 8. neubearbeitete Auflage, Thieme Verlag (1976).Google Scholar
  39. 39).
    Iqbal, A, Alter, M, Lee, S H: Pseudoxanthoma elasticum: a review of neurological complications. Ann. Neurol. 4, 18 (1978).CrossRefPubMedGoogle Scholar
  40. 40).
    Jensen, O A: Bruch’s membrane in pseudoxanthoma elasticum. Albrecht v. Graefes Arch. klin. exp. Ophthal. 203, 311 (1977).Google Scholar
  41. 41).
    Jones, J W, Alden, H S, Bishop, E L: Pseudoxanthoma elasticum. Report of five cases illustrating its association with angioid streaks of the retina. Arch. Derm. Syph. 27, 424 (1933).Google Scholar
  42. 42).
    Keim, H J, Holtermüller, K H, Walter, U, Bork, K, Rothmund, M, Gabbert, H: Unstillbare obere gastrointestinale Blutung als klinische Erstmanifestation eines Pseudoxanthoma elasticum. Z. Gastroenterol. 18, 20 (1980).PubMedGoogle Scholar
  43. 43).
    Keith, C G: Genetik in der Augenheilkunde. Ferdinand Enke Verlag Stuttgart (1981).Google Scholar
  44. 44).
    Langness, U, Kreysel, H W, Thiel, H J, Paetzold, O H, Lerche, W: Klinische und genetische Aspekte beim Darier-Grönblad-Strandberg-Syndrom. Med. Klin. 69, 1229 (1974).PubMedGoogle Scholar
  45. 45).
    Lemoine, A N Jr: Comment on abstract of paper by Berlyne, G M: Pseudoxanthoma elasticum. Surv. Ophth. 6, 139 (1961).Google Scholar
  46. 46).
    Le Rebeller, M J, Penide, J F, Douenne, J L, Hournau, A: Sur un cas de syndrome Groenblad-Strandberg avec dégénérence maculaire évoluée et maladie de Basedow. Bull. Soc. Ophtal. Fr. 77, 713 (1977).Google Scholar
  47. 47).
    Marchionini, A, Turgut, K: Über Pseudoxanthoma elasticum hereditarium. Derm. Wschr. 114, 145 (1942).Google Scholar
  48. 48).
    Martenet, A C: Persönliche Mitteilung (1981).Google Scholar
  49. 49).
    Matras, A: Pseudoxanthoma elasticum. Zbl. Haut- u. Geschl.-Kr. 50, 280 (1935).Google Scholar
  50. 50).
    McKusick, VA: Pseudoxanthoma elasticum. J. chron. Dis. 3, 263 (1956).CrossRefPubMedGoogle Scholar
  51. 51).
    McKusick, VA: Hereditary disorders of connective tissue. Bull. N. Y. Acad. Med. 35, 143 (1959).PubMedGoogle Scholar
  52. 52).
    McKusick, VA: Mendelian inheritance in Man; catalogs of autosomal dominant, autosomal recessive and X-linked phenotypes. Ed. 5. Baltimore, The John Hopkins Press (1978).Google Scholar
  53. 53).
    McKusick, VA: Pseudoxanthoma elasticum. In: Heritable disorders of connective tissue. Ed. 4 St. Louis; CV Mosby Co. 475 (1972).Google Scholar
  54. 54).
    Milian, M: Pseudo-xanthome élastique. Bull. Soc. franç. Derm. 25, 248 (1914).Google Scholar
  55. 55).
    Neilen, M, Jacobson, M: Pseudoxanthoma elasticum (Groenblad-Strandberg disease) with coronary artery calcification. S. Afr. Med. J. 32, 649 (1958).Google Scholar
  56. 56).
    Osbourn, R A, Olivo, MA: Pseudoxanthoma elasticum in mother and daughter. Arch. Derm. Syph. 63, 661 (1951).Google Scholar
  57. 57).
    Paton, D: Angioid streaks and sickle cell anemia. Arch. Ophthal. 62, 852 (1959).PubMedGoogle Scholar
  58. 58).
    Paton, D: The realtion of angioid streaks to systemic disease. Charles C Thomas Publisher, USA (1972).Google Scholar
  59. 59).
    Pope, FM: Autosomal dominant variants of pseudoxanthoma elasticum J. med. Gen. 11, 152 (1974 a).CrossRefGoogle Scholar
  60. 60).
    Pope, F M: Two types of austosomal recessive pseudoxanthoma elasticum. Arch. Derm. 110, 209 (1974 b).CrossRefPubMedGoogle Scholar
  61. 61).
    Pope, FM: Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Brit. J. Derm. 92, 493 (1975).CrossRefPubMedGoogle Scholar
  62. 62).
    Petges, G, Lecoulant, P: Pseudoxanthome élastique de Darier. In: Darier et al. editors: Nouvelle pratique dermatologique. Masson & Cie. Paris (1936).Google Scholar
  63. 63).
    Rigal, D: Observation pour servir à l’histoire de la chéloïde diffuse xanthélasmique. Ann. Derm. Syph. 2, 491 (1881).Google Scholar
  64. 64).
    Sames, C P: Pseudoxanthoma elasticum: severe melaena from the jejunum treated by resection. Proc. roy. Soc. Med. 54, 519 (1961).Google Scholar
  65. 65).
    Sandmann, F: Ein Fall von Pseudoxanthoma elasticum (Darier). Acta derm.-vener. (Stockh.) 3, 448 (1922).Google Scholar
  66. 66).
    Shaffer, B, Copelan, H W, Beerman, H: Pseudoxanthoma elasticum; a cutaneous manifesta-tion of a systemic disease; report of a case of Paget’s disease and a case of calcinosis with arteriosclerosis of Paget’s disease and a case of calcinosis with arteriosclerosis as manifestations of this syndrome. Arch. Derm. Syph. 76, 622 (1957).Google Scholar
  67. 67).
    Schibli, H, Stutz, S B, Vogel, A, Jaeger, W, Bersch, A, Schnyder, U W: Systemisches Cutis laxa-artiges Pseudoxanthoma elasticum. Hautarzt (im Druck).Google Scholar
  68. 68).
    Strandberg, J: Pseudoxanthoma elasticum. Z. Haut- u. Geschl.-Kr. 31, 689 (1929).Google Scholar
  69. 69).
    Tannenbaum, HL, de Margerie, J: Sudden bilateral loss of central vision in pseudoxanthoma elasticum; fluorescence photography of the ocular lesions. Canad. J. Ophthal. 1, 221 (1966).Google Scholar
  70. 70).
    Throne, B, Goddman, H: Pseudoxanthoma elasticum. Arch. Derm. Syph. 4, 419 (1921).Google Scholar
  71. 71).
    Touraine, A: L’élastorrhexie systématisée. Bui. Bull. Soc. franç, Derm. Syph. 47, 255 (1940).Google Scholar
  72. 72).
    Touraine, A: L’élastorrhexie systématisée. Presse Méd. 49, 361 (1941).Google Scholar
  73. 73).
    Vogel, F, Dorn, H: Groenblad-Strandberg-Syndrom. In: Humangenetik. Ein kurzes Handbuch in fünf Bänden, herausgegeben von Becker, P E, Thieme Verlag (1964), Band IV, 352–354.Google Scholar
  74. 74).
    Voisin, J, Lombard, J: Pseudoxanthome élastique et lésions maculaires sans stries angioïdes. Soc. Franç. d’Opht. 67, 111 (1954).Google Scholar
  75. 75).
    Werther: Über Pseudoxanthoma elasticum. Arch. Derm. 69, 23 (1904).CrossRefGoogle Scholar
  76. 76).
    Weve, H J M: Demonstrationen. Niederländische ophthalmologische Gesellschaft, 1933. Klin. Mbl. Augenheilk. 92, 538 (1934).Google Scholar
  77. 77).
    Wigley, J E M: Dermatolysis (Cutis laxa). Brit. J. Derm. 55, 246 (1943).CrossRefGoogle Scholar
  78. 78).
    Wise, D: Hereditary disorders of connective tissue (pp. 467–553). In: Handbuch der Haut- und Ge-schlechtskrankheiten von J. Jadassohn. Ergänzungswerk. VII Springer Berlin (1966).Google Scholar
  79. 79).
    Witkowski, R, Prokop, O: Genetik erblicher Syndrome und Mißbildungen. Wörterbuch für die Familienberatung. Akademieverlag Berlin (1976).Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1987

Authors and Affiliations

  • Sylvia B. Stutz
    • 1
  • W. Schmid
    • 1
  1. 1.Institut für Medizinische GenetikDer Universität ZürichZürichSwitzerland

Personalised recommendations