National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Pili torti



Are there new therapies for treatment of pili torti?

The following information may help to address your question:


What is pili torti?

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

Are there new therapies for treatment of pili torti?

In acquired pili torti, treatment involves stopping the exposure to the causative agent (e.g., to oral retinoids) or condition (e.g., improving diet).[1] There is no specific treatment for the inherited form of pili torti. It may improve spontaneously after puberty. If pili torti is detected, further evaluation to investigate possible neurological disorders, problems with hair, teeth or nails (ectodermal disturbances) and hearing loss is mandatory.[2] It is generally recommended that people with pili torti try to avoid trauma to the hair.[1][3] Suggestions include, sleeping on a satin pillowcase, avoiding excessive grooming, braiding, heat treatments, dying and coloring, reducing exposure to sunlight (wear a hat), using gentle shampoos diluted in warm water, adding conditioner to freshly washed hair, avoiding use of a hair dryer (or using it on cool setting), and avoiding oral retinoids (e.g., isotretinoin, acitretin) if possible.[3][1] Some individuals with pili torti choose to wear a wig.[1]
Last updated: 12/28/2015

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  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.
  3. Gelles LN. Picture of the month. Pili torti. Arch Pediatr Adolesc Med. 1999 Jun; http://archpedi.ama-assn.org/cgi/content/full/153/6/647. Accessed 2/23/2011.