Autosomal Dominant Ichthyosis Vulgaris

  • Heiko Traupe


Alibert [1] is credited with the first description of autosomal dominant ichthyosis vulgaris (ADI) under the designation “ichthyose nacrée.“ Peukert [14] noted the frequent familial occurrence of the disease and concluded that it was inherited as a dominant trait. A number of reports in the older literature mention that ADI seems frequently to skip a generation [13]. The skipping of a generation is typical for X-linked recessive inheritance, and in a number of families in which skipping of ichthyosis vulgaris is mentioned in the literature the disease may in fact have been X-linked recessive ichthyosis (XRI). The clinical and genetic features of ADI could be fully appreciated only after XRI had been delineated by Wells and Kerr [20, 21].


Hematoxylin Eosin Dermatitis Dermatol Cryptorchidism 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Alibert L (1806) Description des maladies de la peau, observés a l’hópital Saint-Louis et exposition des meilleurs méthodes suivies pour leur traitement. Paris.Google Scholar
  2. 2.
    Anton-Lamprecht (1973) Zur Ultrastruktur hereditärer Verhornungsstörungen. III. Autosomal-dominante Ichthyosis vulgaris. Arch Dermatol Forsch 248:149–172PubMedCrossRefGoogle Scholar
  3. 3.
    Anton-Lamprecht I, Hofbauer U (1972) Ultrastructural distinction of autosomal dominant ichthyosis vulgaris and X-linked recessive ichthyosis. Hum Genet 15:261–264CrossRefGoogle Scholar
  4. 4.
    Dale BA, Holbrook KA, Steinert PM (1978) Assembly of stratum comeum basic protein and keratin filaments in macrofibrils. Nature 276:729–731PubMedCrossRefGoogle Scholar
  5. 5.
    Doepfmer R (1960) I. Hodendystopien (Kryptorchismus). In: Jadassohn J (ed) Handbuch der Haut- u. Geschlechtskrankheiten, vol 6/3. Springer, Berlin Göttingen Heidelberg, pp 517–531Google Scholar
  6. 6.
    Fartasch M, Haneke E, Anton-Lamprecht I (1987) Ultrastructural study of the occurrence of autosomal dominant ichthyosis vulgaris in atopic eczema. Arch Dermatol Res 279:270–272PubMedCrossRefGoogle Scholar
  7. 7.
    Feinstein A, Ackerman AB, Ziprkowski L (1970) Histology of autosomal dominant ichthyosis vulgaris and X-linked ichthyosis. Arch Dermatol 101:524–527PubMedCrossRefGoogle Scholar
  8. 8.
    Fleckman P, Holbrook KA, Dale BA, Sybert VP (1987) Keratinocytes cultured from subjects with ichthyosis vulgaris are phenotypically abnormal. J Invest Dermatol 88:640–645PubMedCrossRefGoogle Scholar
  9. 9.
    Hofbauer M, Schnyder UW (1974) Zur Differentialdiagnose von autosomal dominanter Ichthyosis vulgaris and X-chromosomaler Ichthyose. Hautarzt 25:319–325PubMedGoogle Scholar
  10. 10.
    Mevorah B, Marazzi A, Frenk E (1985) The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients. Br J Dermatol 112:679–685PubMedCrossRefGoogle Scholar
  11. 11.
    Michaëlsson G, Forsum U, Malmnäs-Tjerlund U, Rask L, Vahlquist A (1979) Retinol-bind- ing protein in serum and epidermis of patients with ichthyosis vulgaris. Clin Exp Dermatol 4:445–451PubMedCrossRefGoogle Scholar
  12. 12.
    Moll I, Traupe H, Voigtländer V, Moll R (1988) Das Zytoskelett der hereditären Ichthyosen. Hautarzt 39:82–90PubMedGoogle Scholar
  13. 13.
    Orel H (1929) Die Vererbung der Ichthyosis congenita und der Ichthyosis vulgaris. Kleine Beiträge zur Vererbungswissenschaft. V. Mitteilung. Z Kinderheilkd 47:312–340CrossRefGoogle Scholar
  14. 14.
    Peukert M (1899) Über Ichthyosis. Eine Übersicht. Dermatol Z: 171–204Google Scholar
  15. 15.
    Salfeld K, Lindley J (1963) Zur Frage der Merkmalskombination bei Ichthyosis vulgaris mit Bambushaarbildung und ektodermaler Dysplasie. Dermatol Wochschr 147:118–128Google Scholar
  16. 16.
    Sybert VP, Dale BA, Holbrook KA (1985) Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyalin granules. J Invest Dermatol 84:191–194PubMedCrossRefGoogle Scholar
  17. 17.
    Traupe H, Happle R (1980) Klinik und Genetik der Ichthyosis vulgaris-Gruppe. Fortschr Med 98:1809–1815PubMedGoogle Scholar
  18. 18.
    Voß E, Voß M (1980) Genodermatosen in den Kreisen Heiligenstadt und Worbis. Dissertation A an der Medizinischen Akademie ErfurtGoogle Scholar
  19. 19.
    Voß M, Voß E, Schubert H (1982) Schuppung der Ohren. Ein Leitsymptom der Ichthyosis- gruppe? Dermatol Monatsschr 168:394–397PubMedGoogle Scholar
  20. 20.
    Wells RS, Kerr CB (1966) Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1:947–950PubMedCrossRefGoogle Scholar
  21. 21.
    Wells RS, Kerr CB (1966) The histology of ichthyosis. J Invest Dermatol 46:530–535Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1989

Authors and Affiliations

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

Personalised recommendations