Pili torti

Common Name(s)

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. Some cases are genetic while others are acquired. In the inherited form, symptoms tend to be present from early childhood. It can occur alone or in association with 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).  Click here to visit DermAtlas and view an image of a child with pili torti.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pili torti" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Pili torti" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Pili torti" returned 5 free, full-text research articles on human participants. First 3 results:

Last Updated: 22 Sep 2000

Go To URL
The Bjornstad syndrome (sensorineural hearing loss and pili torti) disease gene maps to chromosome 2q34-36.
 

Author(s): J F Lubianca Neto, L Lu, R D Eavey, M A Flores, R M Caldera, S Sangwatanaroj, J J Schott, B McDonough, J I Santos, C E Seidman, J G Seidman

Journal: Am. J. Hum. Genet.. 1998 May;62(5):1107-12.

 

We report that the Bjornstad syndrome gene maps to chromosome 2q34-36. The clinical association of sensorineural hearing loss with pili torti (broken, twisted hairs) was described >30 years ago by Bjornstad; subsequently, several small families have been studied. We evaluated a large ...

Last Updated: 21 May 1998

Go To URL
Unknown syndrome in sibs: pili torti, growth delay, developmental delay, and mild neurological abnormalities.
 

Author(s): S K Shapira, A S Neish, B R Pober

Journal: J. Med. Genet.. 1992 Jul;29(7):509-10.

 

We present male and female sibs of consanguineous parents with features including pili torti with unusual hair shaft electron microscopic (EM) findings, growth delay, developmental delay, and mild to moderate neurological abnormalities. The features of the cases presented here have ...

Last Updated: 28 Aug 1992

Go To URL

Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Pili torti" returned 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.