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Genetic and Rare Diseases Information Center (GARD)

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Epidermolytic hyperkeratosis


Other Names for this Disease

  • BCIE
  • BIE
  • Bullous congenital ichthyosiform erythroderma
  • Bullous erythroderma ichthyosiformis congenita of Brocq
  • Bullous ichthyosiform erythroderma
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 hyperkeratosis is a genetic skin disorder. It is characterized by widespread blistering and skin that is reddened, dry, thickened, and scaly (ichthyotic erythroderma). It is caused by mutations in the KRT1 or KRT10 genes. It has an autosomal dominant pattern of inheritance.[1]
Last updated: 11/30/2011

References

  1. KRT1. Genetics Home Reference. http://www.ghr.nlm.nih.gov/gene=krt1. Accessed 4/28/2010.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Epidermolytic hyperkeratosis. This website is maintained by the National Library of Medicine.
  • DermNetNZ provides information on ichthyosis in general. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.
  • 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. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
  • The 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 hyperkeratosis. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • BCIE
  • BIE
  • Bullous congenital ichthyosiform erythroderma
  • Bullous erythroderma ichthyosiformis congenita of Brocq
  • Bullous ichthyosiform erythroderma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.