Inherited ichthyosis: Syndromic forms

J Dermatol. 2016 Mar;43(3):252-63. doi: 10.1111/1346-8138.13284.

Abstract

Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.

Keywords: genetic disease with ichthyosis; ichthyosis; multisystem defects; organ systems other than skin.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics
  • Alopecia / genetics
  • Chondrodysplasia Punctata / genetics
  • Deafness / genetics
  • Female
  • Genetic Diseases, X-Linked / genetics
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Ichthyosiform Erythroderma, Congenital / genetics
  • Ichthyosis / classification
  • Ichthyosis / genetics*
  • Ichthyosis / pathology
  • Keratitis / genetics
  • Limb Deformities, Congenital / genetics
  • Lipid Metabolism, Inborn Errors / genetics
  • Male
  • Multiple Sulfatase Deficiency Disease / genetics
  • Muscular Diseases / genetics
  • Netherton Syndrome / genetics
  • Photophobia / genetics
  • Refsum Disease / genetics
  • Sjogren-Larsson Syndrome / genetics
  • Syndrome
  • Trichothiodystrophy Syndromes / genetics

Supplementary concepts

  • Chanarin-Dorfman Syndrome
  • Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects
  • HID Syndrome
  • Ichthyosis follicularis atrichia photophobia syndrome
  • Keratitis, Ichthyosis, and Deafness (KID) Syndrome