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Diseases

Genetic and Rare Diseases Information Center (GARD)

Epidermolytic ichthyosis


Other Names for this Disease
  • Bullous congenital ichthyosiform erythroderma
  • epidermolytic hyperkeratosis
  • EHK
  • Congenital bullous ichthyosiform erythroderma
  • BCIE
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Epidermolytic ichthyosis (EI) is a rare, genetic skin disorder. It becomes apparent at birth, or shortly after birth, with reddening, scaling, and severe blistering of the skin. Hyperkeratosis (thickening of the skin) develops within months and worsens over time. Blister formation decreases, but may still occur after skin trauma or during summer months. Skin can be itchy and smelly, and prone to infection. Other features may include reduced sweating; nail abnormalities; and in severe cases, growth failure.[1] EI is caused by changes (mutations) in the KRT1 or KRT10 genes. About half of cases are due to new mutations and are not inherited from a parent (sporadic). Other cases are usually inherited in an autosomal dominant manner, and rarely, in an autosomal recessive manner.[1][2] Treatment aims at alleviating and preventing symptoms and may include topical moisturizers or medications, and antiseptic washes.[1]
Last updated: 2/24/2016

References

  1. Nathalie Jonca and Juliette Mazereeuw-Hautier. Epidermolytic ichthyosis. Orphanet. December, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=312.
  2. Epidermolytic hyperkeratosis. Genetics Home Reference. November, 2011; http://ghr.nlm.nih.gov/condition/epidermolytic-hyperkeratosis.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Epidermolytic ichthyosis. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Epidermolytic ichthyosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Bullous congenital ichthyosiform erythroderma
  • epidermolytic hyperkeratosis
  • EHK
  • Congenital bullous ichthyosiform erythroderma
  • BCIE
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.