Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis

Acta Derm Venereol. 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431.


The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manifestations. The inheritance in different families can be autosomal dominant, autosomal recessive or either X-linked dominant or recessive. Currently at least 67 distinct genes have been associated with different forms of ichthyosis. These genes can be grouped on the basis of their physiological involvement, including genes encoding structural components of epidermis, those involved in epidermal lipid metabolism, or those critical for cell-cell adhesion, and keratinocyte differentiation. This overview highlights some of the recent progress made in understanding the molecular genetics of keratinization disorders, and presents selected, recently characterized cases as representative of different forms of heritable ichthyosis.

Keywords: ichthyosis; non-alcoholic fatty liver disease; non-syndromic ichthyosis; syndromic ichthyosis; autosomal recessive congenital ichthyosis.

Publication types

  • Review

MeSH terms

  • Alopecia / genetics
  • Cell Adhesion / genetics
  • Cell Communication / genetics
  • Cholangitis, Sclerosing / genetics
  • Claudin-1 / deficiency
  • Claudin-1 / genetics
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Ichthyosis / physiopathology
  • Leukocyte Disorders / genetics
  • Lipid Metabolism, Inborn Errors / genetics
  • Muscular Diseases / genetics
  • Mutation
  • Phenotype
  • Skin Physiological Phenomena / genetics


  • Claudin-1

Supplementary concepts

  • Chanarin-Dorfman Syndrome
  • Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis