Diseases

Netherton Syndrome

Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

Rare autosomal recessive disease with variable expressions. Clinical features of the disease include variable ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; bamboo hair (trichorrhexis invaginata); and ATOPIC DERMATITIS. The disease is caused by mutations in the SPINK5 gene.

MeSH Record

Classification

Broader headings

Related Concepts

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MeSH Record

See Also

MeSH Record

Synonyms

1 entry terms
  • Netherton Disease

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

2010

MeSH Record

Previous Indexing

  • Ichthyosiform Erythroderma, Congenital (1992-2009)

MeSH Hierarchy

Tree Numbers

  1. C16w.131w.077w.619w
  2. C16w.131w.831.512w.400w.705w
  3. C16w.320w.850w.673w
  4. C16w.614.492w.400w.705w
  5. C17.800w.428w.333w.250w.705w
  6. C17.800w.804.512w.400w.705w
  7. C17.800w.827w.655w

AMA Style

References

  1. National Library of Medicine. Netherton Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D056770. http://id.nlm.nih.gov/mesh/2026/D056770
  2. Netherton Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Netherton_syndrome
  3. Netherton Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q9390284