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Diseases

Genetic and Rare Diseases Information Center (GARD)

Clouston syndrome


Other Names for this Disease
  • ED2
  • Ectodermal dysplasia, hidrotic
  • HED
  • Autosomal dominant hidrotic ectodermal dysplasia
  • Hidrotic ectodermal dysplasia, autosomal dominant
Related Diseases
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Overview

Clouston syndrome is a form of ectodermal dysplasia that is characterized by abnormalities of the skin, hair and nails. Early signs and symptoms generally begin in infancy and may include nail abnormalities and sparse scalp hair that is wiry, brittle, patchy and pale. Progressive hair loss may lead to total alopecia by puberty. Affected people may also have palmoplantar hyperkeratosis (thick skin on the palms of the hands and soles of the feet), hyperpigmentation of skin (especially over joints) and/or clubbing of the fingers. Clouston syndrome is caused by changes (mutations) in the GJB6 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.[1][2]
Last updated: 12/9/2015

References

  1. Clouston syndrome. Genetics Home Reference. March 2014; http://ghr.nlm.nih.gov/condition/clouston-syndrome.
  2. Vazken M Der Kaloustian, MD. Hidrotic Ectodermal Dysplasia 2. GeneReviews. January 2015; http://www.ncbi.nlm.nih.gov/books/NBK1200/.
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Basic Information

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 Clouston syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • ED2
  • Ectodermal dysplasia, hidrotic
  • HED
  • Autosomal dominant hidrotic ectodermal dysplasia
  • Hidrotic ectodermal dysplasia, autosomal dominant
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.