The Ichthyoses pp 179-186 | Cite as

X-Linked Dominant Ichthyosis

  • Heiko Traupe

Abstract

X-linked dominant ichthyosis is a multisystem disorder involving skin, bones, and eyes [4–8]. The condition also is often called “X-linked dominant chondrodysplasia punctata” [5, 8, 16, 17]. How the disease is named depends of course, on how it is looked at. For a dermatologist, ichthyotic erythroderma at birth evolving into a nonerythematous ichthyosis with linear skin lesions is the hallmark of the condition, while a pediatrician may attach more importance to the mild chondrodysplasia punctata. I prefer the designation “X-linked dominant ichthyosis” (XDI).

Keywords

Warfarin Peri Cataract Dermatol Alopecia 

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References

  1. 1.
    Bergers M, Mier PD, van Dooren-Grebe R, Traupe H, Happle R (1988) Enzymatic diagnosis of congenital disorders of keratinization. 18th annual meeting of the European Society for Dermatological Research, June 19–22, 1988, MunichGoogle Scholar
  2. 2.
    Bodian EL (1966) Skin manifestations of Conradi’s disease (Chondrodystrophia congenita punctata). Arch Dermatol 94:743–748PubMedCrossRefGoogle Scholar
  3. 3.
    Goerttler E (1979) Chondrodysplasia punctata Typ ConradiHünermann. Z Hautkr 54:676–677Google Scholar
  4. 4.
    Happle R (1979) X-linked dominant ichthyosis. Clin Genet 15:239–240PubMedCrossRefGoogle Scholar
  5. 5.
    Happle R (1979) X-linked dominant chondrodysplasia punctata. Review of literature and report of a case. Hum Genet 53:65–73PubMedCrossRefGoogle Scholar
  6. 6.
    Happle R (1981) Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata. Clin Genet 19:64–66PubMedCrossRefGoogle Scholar
  7. 7.
    Happle R, Kästner H (1979 X-gekoppelt dominante Chondrodysplasia punctata Ein osteokutanes Syndrom. Hautarzt 30:590–594PubMedGoogle Scholar
  8. 8.
    Happle R, Matthiass HH, Macher E (1977) Sex-linked chondrodysplasia punctata? Clin Genet 11:73–76PubMedCrossRefGoogle Scholar
  9. 9.
    Happle R, Phillips RJS, Roessner A, Jünemann G (1983) Homologous genes for X-linked chondrodysplasia punctata in man and mouse. Hum Genet 63:24–27PubMedCrossRefGoogle Scholar
  10. 10.
    Hosenfeld D, Wiedemann HR (1987) Chondrodysplasia punctata im Erwachsenenalter als Cumarinembryopathie erkannt. 6. Symposium Klinische Genetik in der Pädiatrie. Juli 3–5 1987, Bad HomburgGoogle Scholar
  11. 11.
    Joosten R, Habedank M (1979) Sex-linked type of chondrodysplasia punctata due to a new mutation. Acta Paediatr Belg 32:275–278PubMedGoogle Scholar
  12. 12.
    Kolde G, Happle R (1984) Histologic and ultrastructural features of the ichthyotic skin in X-linked dominant chondrodysplasia punctata. Acta Derm Venereol (Stockh) 64:389–394Google Scholar
  13. 13.
    Kolde G, Happle R (1985) Langerhans-cell degeneration in X-linked dominant ichthyosis. A quantitative and ultrastructural study. Arch Dermatol Res 277:245–247PubMedCrossRefGoogle Scholar
  14. 14.
    McKusick VA (1988) Mendelian inheritance in man. In: Catalogs of autosomal dominant, autosomal recessive, and X-linked phenotypes, 8th edn Johns Hopkinks University Press, Baltimore, pp 1263–1264Google Scholar
  15. 15.
    Maleville J, Alt J, Grosshans E (1969) Atrophodermie folliculaire, Pseudopelade, kératose pilaire des sourcils et état ichthyosique. Buil Soc Fr Dermatol Syphiligr 76:85–86Google Scholar
  16. 16.
    Manzke H, Christophers E, Wiedemann HR (1980) Dominant sex-linked inherited chondrodysplasia punctata: a distinct type of chondrodysplasia punctata. Clin Genet 15:97–107Google Scholar
  17. 17.
    Mueller RF, Crowle PM, Jones RAK, Davison BCC (1985) X-linked dominant chondrodysplasia punctata: a case report and family studies. Am J Med Genet 20:137–144PubMedCrossRefGoogle Scholar
  18. 18.
    Ohno S (1967) Ancient linkage groups and frozen accidents. Nature 244:259–262CrossRefGoogle Scholar
  19. 19.
    Phillips RJS, Hawker SH, Moseley HJ (1973) Bare patches, a new sex-linked gene in the mouse, associated with a high production of XO females. I. A preliminary report of breeding experiments. Genet Res 22:91–99PubMedCrossRefGoogle Scholar
  20. 20.
    Spranger JW, Opitz JM, Bidder U (1971) Heterogeneity of chondrodysplasia punctata. Hum Genet 11:190–212CrossRefGoogle Scholar
  21. 21.
    Traupe H, Happle R (1983) Alopecia ichthyotica. A characteristic feature of congenital ichtyosis. Dermatologica 167:225–230PubMedCrossRefGoogle Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

  • Heiko Traupe
    • 1
  1. 1.Department of Human GeneticsUniversity of NijmegenHB NijmegenThe Netherlands

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