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Diseases

Genetic and Rare Diseases Information Center (GARD)

Pili torti


Other Names for this Disease
  • Twisted hair
  • Coarse, dry, lusterless hair which breaks off easily
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Overview

Pili torti is a rare hair condition characterized by fragile hair. In pili torti hair has a flattened shaft with clusters of narrow twists at irregular intervals.[1] Some cases may be inherited in autosomal dominant or autosomal recessive patterns, while others are acquired.[1][2] In the inherited form, symptoms tend to be present from early childhood. It can occur alone or as part of other diseases like ectodermal dysplasias, Menke disease, Bjornstand syndrome, or Bazex syndrome. Acquired cases of pili torti may be associated with anorexia nervosa, malnutrition, oral retinoid treatment, or inflammatory scalp conditions (e.g., cutaneous lupus erythematousus). If pili torti is detected, it is necessary to investigate possible neurological disorders, hearing loss, and defects in the hair, nails, sweat glands and teeth.[1] There is no specific treatment for this condition, but it may improve spontaneously after puberty.[2] Click here to visit Medscape and view an image of a child with pili torti.
Last updated: 12/28/2015

References

  1. Defects of the hair shaft. DermNet NZ. 2010; http://www.dermnetnz.org/hair-nails-sweat/hair-shaft-defects.html. Accessed 2/23/2011.
  2. Yang JJH, Cade KV, Rezende FC, Pereira JM & Pegas JRP. Clinical presentation of pili torti - Case report. An Bras Dermatol. 2015; 90(3) Suppl 1:S29-31.. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4540501/#r01. Accessed 12/28/2015.
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Basic Information

  • DermNetNZ provides information on defects of the hair shaft, which includes information on pili torti. DermNetNZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated.

In Depth Information

  • 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 Pili torti. Click on the link to view a sample search on this topic.

Selected Full-Text Journal Articles

Other Names for this Disease
  • Twisted hair
  • Coarse, dry, lusterless hair which breaks off easily
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.