Autosomal und X-chromosomal recessiv vererbte Syndrome mit Hautbeteiligung, welche mit einer erhöhten Tumorincidenz einhergehen

  • T. Šalamon
Chapter

Zusammenfassung

Klinische Symptome, Laborbefunde, Genetik, Differentialdiagnose, Prognose und Therapie derjenigen autosomal recessiv und x-chromosomal recessiv erblichen Syndrome mit Hautbeteiligung, die mit erhöhter Tumorincidenz einhergehen, werden beschrieben. Folgende Syndrome gehören hierher: Ataxia teleangiectatica, Bloom-Syndrom, Fanconi-Anämie, Dyskeratosis congenita, Werner-, Wiskott-Aldrich- und Chediak-Higashi-Syndrom.

Summary

The clinical symptoms, various laboratory findings, genetics, differential diagnosis, prognosis and treatment of some autosomal recessively and X-chromosomal recessively inherited syndromes with participation of the skin are described. All go with an increased incidence of tumors. The following syndromes belong here: ataxia-teleangiectasia, Bloom syndrome, Fanconi anemia, Dyskeratosis congenita, the syndromes of Werner, of Wiskott-Aldrich and of Chediak and Higashi.

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Literatur

  1. 1).
    Aguilar, A R, Gomez, F, Sierra, R T et ah: Dyskeratosis congenita Zinsser-Cole-Engman form with abnormal karyotype. Dermatologica (Basel) 148, 98–103 (1974).CrossRefGoogle Scholar
  2. 2).
    Aldrich, R A, Steinberg, A G, Campbell, D C: Pedigree demonstrating a sex-linked recessive condition characterized by draining ear, eczematoid dermatitis and bloody diarrhea. Pediatrics 13, 133–139 (1954).PubMedGoogle Scholar
  3. 3).
    Amiet, A.: Aldrich’s Syndrome: A report of two cases. Ann. Paediat. 201, 315–318 (1963).PubMedGoogle Scholar
  4. 4).
    Arthuis, M. In: Debre-Lelong: Paediatrie. Flammarion (Paris). Mis au jour 1971.Google Scholar
  5. 5).
    Auerbach, A D, Wollmann, S R.: Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature (Lond.) 261, 494–496 (1976).CrossRefGoogle Scholar
  6. 6).
    Bari-Kolata, G.: Testing for cancer risk. Science 207, 967–969 (1980).CrossRefGoogle Scholar
  7. 7).
    Bartram, C, Koske- Westphal, A, Passarge, E.: Chromatid interchange in Ataxia telangiectasia, Bloom syndrome. Werner syndrome and Xeroderma pigmentosum. Ann. hum. Genet. 40, 79–86 (1976).PubMedCrossRefGoogle Scholar
  8. 8).
    Bloom, D.: The syndrome of congenital telangiectatic erythema and stunted growth. J. Pediat. (St. Louis) 68, 103–113 (1966).Google Scholar
  9. 9).
    Blume, R S, Glade, P R, Gralnick, HR et al: The Chediak-Higashi syndrome: continuous suspension cultures derived from peripheral blood. Blood 33, 821–832 (1969).PubMedGoogle Scholar
  10. 10).
    Bryant, EM, Hoehn, H, Martin, G M.: Normalisation of sister chromatid exchange frequencies in Bloom syndrome by euploid hybridisation. Nature (Lond.) 279, 795–796 (1979).CrossRefGoogle Scholar
  11. 11).
    Butterworth, T, Strean, L P.: Clinical genodermatology. Williams and Wilkins Co. Baltimore (1962).Google Scholar
  12. 12).
    Carter, D M.: Human diseases characterized by heritable DNA instability. In: Birth defects. Vol. XVII, Nr. 2, 117–128. March of Dimes Foundation (1981).Google Scholar
  13. 13).
    Chaganti, R S K, Schonberg, S, German, J.: A manifold increase in sister chromatid exchanges in Bloom’s syndrome lymphocytes. Proc. nat. Acad. Sci. (Wash.) 71, 4508–4512 (1974).CrossRefGoogle Scholar
  14. 14).
    Cole, H N Jr.: Dyskeratosis congenita. Arch. Derm. (Chicago) 73, 130–131 (1956).Google Scholar
  15. 15).
    Cooper, M D et ah: cit. bei Peckham.Google Scholar
  16. 16).
    Darlington, G J, Dutkowski, R, Brown, W T.: Sister chromatid exchange frequencies in progeria and Werner syndrome patients. Amer. J. hum. Genet. 33, 762–766 (1981).PubMedGoogle Scholar
  17. 17).
    Djawari, D, Lukaschek, E, Jecht, E: Altered cellular immunity in Werner’s syndrome. Dermatologica (Basel) 161, 233–237 (1980).CrossRefGoogle Scholar
  18. 18).
    Dutan, G.: J. gen. Hum. 23, 281–299 (1975).Google Scholar
  19. 19).
    Elmore, E, Swift, M.: Growth of cultured cells from patients with Fanconi anemia. Genet, abstr. 8 (9), 186 (1976).Google Scholar
  20. 20).
    Eugman, A.: Unique case of reticular pigmentation of the skin with atrophy. Arch. Derm. Syph. 13, 685–686 (1926).Google Scholar
  21. 21).
    Fasth, A.: Immunodeficiency in children with special reference to skin symptoms. Acta derm.-vener. (Stockh.) Suppl. 95, 13–19 (1981).Google Scholar
  22. 22).
    Frenk, E.: Albinismus und andere genetisch bedingte oder fleckig disseminierte Hypopigmentierungen der Haut. Hautarzt 33, 89–95 (1982).PubMedGoogle Scholar
  23. 23).
    Gatti, R A, Good, R A.: Occurrence of malignancy in immunodeficiency diseases. A literature review. Cancer (Philad.) 28, 89–98 (1971).CrossRefGoogle Scholar
  24. 24).
    Garb, J.: Dyskeratosis congenita with pigmentation, dystrophia unguium and leukoplakia oris. Arch. Derm. (Chicago) 77, 704–712 (1958).CrossRefGoogle Scholar
  25. 25).
    German, J.: Bloom’s syndrome I. Genetical and clinical observations in the first twenty- seven patients. Amer. J. hum. Genet. 21, 196–227 (1969).Google Scholar
  26. 26).
    Giannetti, A, Seidenari, S.: Dyskeratosis congenita. Dermatologica (Basel) 160, 113–117 (1980).CrossRefGoogle Scholar
  27. 27).
    Gilchrest, B A.: Premature aging syndromes affecting the skin. In: Birth defects. Vol. XVII, Nr. 2, 227–241. Arch of Dimes Foundation (1981).Google Scholar
  28. 28).
    Goldstein, S, Moerman, E J.: Defective proteins in normal and abnormal human fibroblasts during aging in vitro. Interdise. Topic. Geront. Vol. 10, 24–43. Karger (Basel) (1976).Google Scholar
  29. 29).
    Goto, M, Tanimoto, K, Hariuchi, Y et al: Family analysis of Werner’s syndrome. Zbl. Haut- u. Geschl.-Kr. 145 (3), 201–202 (1981).Google Scholar
  30. 30).
    Hecht, F.: cit. bei Bari-Kolata.Google Scholar
  31. 31).
    Hecht, F, Keler, R D, Rigos, D et al: Leukemia and lymphocytes in ataxia-teleangiectasia. Lancet II, 1193 (1966).CrossRefGoogle Scholar
  32. 32).
    Hustin, T N Y, Ter Haar, BGA, Scheres, IM J C: Bloom’s syndrome in two Dutch families. Clin. Genet. 12, 85–96 (1977).CrossRefGoogle Scholar
  33. 33).
    Jackson, ADM, Lawler, S D.: cit. bei Wise.Google Scholar
  34. 34).
    Kaloustian, V M, Kurban, A K: Genetic disease of skin. Berlin, Heidelberg, New York: Springer 1979.Google Scholar
  35. 35).
    Kersting: Diskussion zur Arbeit Stegmaier und Schneider.Google Scholar
  36. 36).
    Kidson, C.: Disease of DNA repair. In: Clinics in haematology 9 (1). Saunders Co., London, Philadelphia, Toronto (1980).Google Scholar
  37. 37).
    Kosoric, D, Vujisic, Z, Sator, Z.: Problem terapije aplasticne anemije Fonkonijevog tipa. X. jubil. pedijatr. dani SRBiH, 257–260 (1970).Google Scholar
  38. 38).
    Kritzler, R A, Terner, J Y, Lindenbaum, J.: Chediak-Higashi syndrome. Cytologie and serum lipid observations in a case and family. Amer. J. Med. 36, 583–594 (1964).PubMedCrossRefGoogle Scholar
  39. 39).
    Krebs, E, Hartmann, E, Thiebaut, F.: cit. bei Wise.Google Scholar
  40. 40).
    Landau, J W, Sasaki, M S, Newcomer, V D et al: Bloom’s syndrome. The syndrome of telangiectatic erythema and growth retardation. Arch. Derm. (Chicago) 94, 687–694 (1966).CrossRefGoogle Scholar
  41. 41).
    Lemarchand- Venencie, F, Gluckman, E, Devergie, A et al: Syndrome de Zinsser-Cole-Engmann. Forme complete avec atteinte hématologique sévere traitée par greffe de moelle osseuse allogénique. Ann. Derm. Vénér. (Paris) 109, 783–784 (1982).Google Scholar
  42. 42).
    Levine, A S, Spitter, L E, Stiles, D P et al: Wiskott-Aldrich syndrome - a genetically determined cellular immunologie deficiency: Clinical and laboratory responses to therapy with transfer factor. Proc. nat. Acad. Sci. (Wash.) 67, 825–828 (1970).Google Scholar
  43. 43).
    Lorette, G, Guérois, M, Arbeille-Brassart, B et al: Dyskeratose congénitale de Zinsser-Çole-Engman chez deux frères. Ann. Derm. Vénér. (Paris) 107, 799–805 (1980).Google Scholar
  44. 44).
    Lynch, H T: Hereditary factors in carcinoma. Berlin, Heidelberg, New York: Springer 1967.Google Scholar
  45. 45).
    Malleville, J, Le Roy, I M, Diard, A et al: Une association inédite: dyskeratose de Zinsser-Cole-Engman, syndrome de Klippel-Feil et malformation de Sprengel. Ann. Derm. Vénér. (Paris) 107, 1207–1211 (1980).Google Scholar
  46. 46).
    McKusick, VA.: Mendelian inheritance in man: Hopkins Univ. Press. Baltimore, London (1975).Google Scholar
  47. 47).
    Milgrom, H, Stoll, H L, Crissey, J T.: Dyskeratosis congenita. Arch. Derm. (Chicago) 89, 345–349 (1964).CrossRefGoogle Scholar
  48. 48).
    Mills, S E, Cooper, P H, Beacham, B E et al: Intracranial calcification and dyskeratosis congenita. Arch. Derm. (Chicago) 115, 1437–1439 (1979).CrossRefGoogle Scholar
  49. 49).
    Muench, K H.: The genetic basis for human disease. Elsevier, New York, Oxford (1979).Google Scholar
  50. 50).
    Myers und Mitarb.: cit. bei Blume.Google Scholar
  51. 51).
    Nakao, J, Kishihara, M, Yoshimi, H et al: Werner’s syndrome in vivo and in vitro characteristics as a model of aging. Exc. Med. sec. 34 (3), 133–134 (1980).Google Scholar
  52. 52).
    Norwood, T H, Hoehn, H, Salk, D et al.: Cellular aging in Werner’s syndrome. J. inve St. Derm. 73, 92–96 (1979).CrossRefGoogle Scholar
  53. 53).
    Obeid, D A.: Oxymetholon hepatic tumors and chromosomal aberratio associated with Fanconi anemia. Leukemic transition. Cancer (Philad.) 46, 1401–1404 (1980).CrossRefGoogle Scholar
  54. 54).
    Padget GA, Leader, R W, Gorham J R et al: The familial occurrence of the Chediak-Higashi syndrome in mink and cattle. Genetics 49, 505–512 (1964).Google Scholar
  55. 55).
    Parkman, R, Rappaport, J, Geha, R et al: Complete correction of the Wiskott-Aldrich syndrome by allogeneic bone-marrow transplantation. New Eng. J. Med. 298, 221–227 (1978).CrossRefGoogle Scholar
  56. 56).
    Peterson, R D A, Kelly, W D, Good, R A.: Ataxia teleangiectasia-its associations with defective thymus, immunological deficiency disease and malignancy. Lancet I, 1189–1193 (1964).CrossRefGoogle Scholar
  57. 57).
    Salamon, T, Bogdanovic, B, Lazovic-Tepavac, O et al.: Werner’s syndrome and the cellular immune reactions. Acta derm.-vener. (Stockh.) 58, 543–546 (1978).Google Scholar
  58. 58).
    Salamon, T, Gackié-Koric, A, Lazovic-Tepavac, O.: Light and electron microscope investigations on the dermis in Werner’s syndrome. Ann. ital. Derm. clin. sper. 33, 67–75 (1979).Google Scholar
  59. 59).
    Sawitsky, A, Bloom, D, German, J.: Chromosomal breakage and acute leukemia in congenital teleangiectatic erythema and stunted growth. Ann. intern. Med. 65, 487–495 (1966).PubMedGoogle Scholar
  60. 60).
    Schimke, R N.: Genetics and cancer in man. Churchill, Livingstone. Edinburgh, London, New York (1978).Google Scholar
  61. 61).
    Schnyder, U W.: Erbliche Gefäßmäler, Teleangiektasien und Lymphödeme. In: Hdb. der Haut-Geschlkr. Ergänzungswerk, VII. Heidelberg: Springer 1966.Google Scholar
  62. 62).
    Schuster, S.: In Dermatology in relation to general medicine. Price’s textbook of the practice of medicine XII. Ed. Oxford Univ. Press, Oxford, New York, Delhi (1978).Google Scholar
  63. 62a).
    Selanowitz, V J, Van Voolen, G A.: Fanconi’s anemia and dyskeratosis congenita. JAMA 216, 2015 (1971).CrossRefGoogle Scholar
  64. 63).
    Silver, W K: The coat colors of mice. Springer, Berlin, Heidelberg New York: Springer 1979.CrossRefGoogle Scholar
  65. 64).
    Sirinayin, C, Trowbridge, A A.: Dyskeratosis congenita: clinical features and genetic aspects. J. med. Genet. 12, 339–354 (1975).CrossRefGoogle Scholar
  66. 64 a).
    Sorrow, J M, Hitch, J M.: Dyskeratosis congenita. First report of its occurrence in a female and review of the literature. Arch. Derm. (Chicago) 88, 340–347 (1963).CrossRefGoogle Scholar
  67. 65).
    Spencer, W H, Hogen, M J.: Ocular manifestations of Chediak-Higashi syndrome. Amer. J. Ophthal. 50, 1197–1203 (1962).Google Scholar
  68. 66).
    Spitler, L E, Wray, B B, Mogerman, S et al: Nephropathy in the Wiskott-Aldrich syndrome. Pediatrics 66, 391–398 (1980).PubMedGoogle Scholar
  69. 67).
    Stegmaier, O C, Schneider, L A.: Chediak-Higashi syndrome. Arch. Derm. (Chicago) 91, 1–8 (1975).CrossRefGoogle Scholar
  70. 68).
    Strong, L C.: Genetic consideration in pediatric oncology. In: Sutow, W W.: Clinical pediatric oncology. Mosby et Co. St. Louis, II. Ed. (1977).Google Scholar
  71. 69).
    Swift, M K, Hirschhorn, N.: Fanconi’s anemia: inherited susceptibility to chromosome breakage in various tissues. Ann. intern. Med. 65, 496–503 (1966).PubMedGoogle Scholar
  72. 70).
    Swift, M.: Fanconi anemia in the genetics of neoplasia. Nature (Lond.) 230, 370–373 (1971).CrossRefGoogle Scholar
  73. 71).
    Swift, M.: Genetic syndromes and predisposition to malignant neoplasms. Int. J. Derm. 14, 733–734 (1975).PubMedCrossRefGoogle Scholar
  74. 72).
    Swift, M.: Malignant neoplasms in heterozygons carriers of genes for certain autosomal recessive syndromes. In: Mullvihill J J et al.: Genetics of human cancer. Raven Press. New York, 1977.Google Scholar
  75. 74).
    Strempel, H, Klein, G, Friedrich, H C.: Dyskeratose congénital. Essais thérapeutiques. Ann. Derm. Vénér. (Paris). 110, 145–148 (1983).Google Scholar
  76. 75).
    Taylor, AMR, Harnden, D G, Arieti, C F et al: Ataxia telangiectasia: a human mutant with abnormal radiation sensitivity. Nature (Lond.) 258, 427–429 (1975).CrossRefGoogle Scholar
  77. 76).
    Touraine, A.: L’hérédité en médecine. Masson (Paris) 1955.Google Scholar
  78. 77).
    Tshou, P, Kohn, T.: Dyskeratosis congenita: an autosomal dominant disorder. J. Amer. Acad. Derm. 6, 1034–1039 (1982).CrossRefGoogle Scholar
  79. 78).
    Windhorst, D B, Zelickson, A S, Good, R A.: Chediak- Higashi syndrome: hereditary gigantism of cytoplasmic organelles. Science 151, 81–83 (1966).PubMedCrossRefGoogle Scholar
  80. 79).
    Wise, D.: Hereditary disorders of connective tissue. In: J. Jadasshohn’s Hbd. der Haut- u. Geschlkr. VII. Springer, Heidelberg (1966).Google Scholar
  81. 80).
    Witkop, C J jr., Quevedo, W C, Fitzpatrick, T B.: Albinism. In: Stanbury, J et al.: The metabolic basis of inherited disease. McGraw Hill. I Ve (1978).Google Scholar
  82. 81).
    Witkowski, R, Prokop, O.: Genetik erblicher Syndrome und Mißbildungen. Akademie- Vlg, Berlin (1983).Google Scholar
  83. 82).
    Womer, R, Clark, J E, Wood, P et al: Dyskeratosis congenita: Two examples of this multisystem disorder. Pediatrics 71, 603–609 (1983).PubMedGoogle Scholar

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© Springer-Verlag Berlin Heidelberg 1988

Authors and Affiliations

  • T. Šalamon
    • 1
  1. 1.Spez. za dermatovenerol. BratstvaSarajevoBosnia and Herzegovina

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