Journal of Dermatological Science
Volume 58, Issue 1 , Pages 72-75 , April 2010

Evidence for genetic modifiers other than filaggrin mutations in X-linked ichthyosis

  • Robert Gruber

      Affiliations

    • Department of Dermatology, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria
    • Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
    • Corresponding Author InformationCorresponding author at: Department of Dermatology, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria. Tel.: +43 512 504 81096; fax: +43 512 504 22990.
  • Daniela Grabher

      Affiliations

    • Department of Dermatology, Innsbruck Medical University, Anichstraße 35, 6020 Innsbruck, Austria
    • Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Innsbruck, Austria
  • Matthias Schmuth

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +43 512 504 28555; fax: +43 512 504 22990.

Received 13 April 2009

References 

  1. Schmuth M, Gruber R, Elias PM, Williams ML. Ichthyosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol. 2007;23:231–256
  2. Bonifas JM, Morley BJ, Oakey RE, Kan YW, Epstein EH. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA. 1987;84:9248–9251
  3. Elias PM, Crumrine D, Rassner U, Hachem JP, Menon GK, Man W, et al. Basis for abnormal desquamation and permeability barrier dysfunction in RXLI. J Invest Dermatol. 2004;122:314–319
  4. Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38:337–342
  5. Gruber R, Janecke AR, Fauth C, Utermann G, Fritsch PO, Schmuth M. Filaggrin mutations p.R501X and c.2282del4 in ichthyosis vulgaris. Eur J Hum Genet. 2007;15:179–184
  6. Sandilands A, ÓRegan GM, Liao H, Zhao Y, Terron-Kwiatkowski A, Watson RM, et al. Prevalent and rare mutations in the gene encoding filaggrin cause ichthyosis vulgaris and predispose individuals to atopic dermatitis. J Invest Dermatol. 2006;126:1770–1775
  7. Liao H, Waters AJ, Goudie DR, Aitken DA, Graham G, Smith FJ, et al. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol. 2007;127:2795–2798
  8. Hoffjan S, Stemmler S. On the role of the epidermal differentiation complex in ichthyosis vulgaris, atopic dermatitis and psoriasis. Br J Dermatol. 2007;157:441–449

PII: S0923-1811(10)00026-5

doi: 10.1016/j.jdermsci.2010.01.002

Journal of Dermatological Science
Volume 58, Issue 1 , Pages 72-75 , April 2010

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