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Diseases

Genetic and Rare Diseases Information Center (GARD)

Netherton syndrome


Other Names for this Disease
  • NETH
  • Netherton disease
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Overview

Netherton syndrome is a type of ichthyosis. Symptoms vary but commonly include inflamed, red, scaly skin, short, brittle, lustreless hair, and a predisposition to allergy problems (e.g., to nuts, hay fever, and asthma).  Symptoms may be mild or severe and tend to present in infancy. Failure to thrive and recurrent infection are possible complications in infants with this syndrome. Netherton syndrome is caused by mutations in the SPINK5 gene. It is inherited in an autosomal recessive fashion.[1][2] The goals of treatment are to manage symptoms and prevent skin infections and other complications. This may include the use of lotions and creams, antibiotics, topical steroids and other therapies.[1]
Last updated: 4/21/2016

References

  1. Netherton syndrome. New Zealand Dermatological Society, Inc. November 2014; http://www.dermnetnz.org/scaly/netherton.html.
  2. Netherton syndrome. Genetics Home Reference (GHR). March 2014; https://ghr.nlm.nih.gov/condition/netherton-syndrome.
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Basic Information

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
  • Genetics Home Reference (GHR) contains information on Netherton syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. 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 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 Netherton syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • NETH
  • Netherton disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.