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Genetic and Rare Diseases Information Center (GARD)

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Uncombable hair syndrome

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Other Names for this Disease

  • Cheveux incoiffables
  • Pili trianguli et Canaliculi
  • Spun glass hair
  • Unmanageable hair syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

My 3.5-year-old granddaughter has always had white, spun, coarse, dry, uneven hair. I would like to know more about a condition called uncombable hair syndrome. I understand that the hair follicles have an odd shape. Could you provide me with as much information as possible about this syndrome?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is uncombable hair syndrome?

Uncombable hair syndrome is a rare condition affecting the hair shaft of the scalp. The condition is characterized by dry, frizzy, blond- to light brown-colored hair that is impossible to comb and that stands out from the scalp.[1][2] Both inherited and sporadic forms have been described in the medical literature. The condition is usually isolated; however, it has been associated with other syndromes in some cases.[2]  Spontaneous improvement of symptoms often occurs in late childhood.[1]
Last updated: 10/16/2008

What are the symptoms of uncombable hair syndrome?

The only hair affected is the scalp hair with over 50% of the scalp hair affected. Although the quantity of the hair remains normal, the hair is often slow growing; however, it is not fragile, brittle or easily broken. The hair is dry, frizzy, blonde to light brown, and difficult to control.[2]
Last updated: 10/13/2008

When do the symptoms of uncombable hair syndrome first appear?

The symptoms of uncombable hair syndrome usually appear during infancy, and rarely after adolescence.[3] The symptoms tend to be apparent from 3 months to 12 years of age, as symptoms tend to improve or disappear with age.[2]
Last updated: 10/13/2008

Are there any other symptoms that can be observed in individuals with uncombable hair syndrome?

In the majority of cases, uncombable hair syndrome occurs in isolation and is not associated with additional findings.[2] Nevertheless, rarely, uncombable hair syndrome has been described in association with ectodermal dysplasias, bone abnormalities, especially of the digits, and eye findings (e.g., retinal dysplasia, pigmentary dystrophy, and juvenile cataract).[3] Because uncombable hair syndrome can rarely be associated with other conditions and findings, which may require different follow-up and treatment, it is recommended that an accurate diagnosis of isolated uncombable hair syndrome be made to avoid repeated clinical evaluations, to look for associated conditions, to determine inheritance pattern, and to provide information regarding the long-term outcome.[2]
Last updated: 10/13/2008

What causes uncombable hair syndrome?

The majority of documented cases of uncombable hair syndrome have been genetic; there has only been one case of acquired uncombable hair that has been reported.[4]  The genetic form of uncombable hair syndrome is believed to be caused by a mutation in a gene, although the gene that causes the condition has not been identified yet.
Last updated: 10/13/2008

Is uncombable hair syndrome hereditary?

Yes, it can be. Individuals with uncombable hair syndrome often have a negative family history, though the characteristic hair shaft anomaly seen in individuals that have uncombable hair syndrome can be demonstrated in asymptomatic family members by looking at their hair under a specific type of microscope.[1] The asymptomatic family members typically have fewer number of scalp hairs affected.
Last updated: 10/13/2008

How is uncombable hair syndrome probably inherited?

Although it is not known with certainty how uncombable hair syndrome is inherited, reported cases suggest that it might be inherited in an autosomal dominant or autosomal recessive fashion.[5]
Last updated: 10/13/2008

How is uncombable hair syndrome diagnosed?

Diagnosis is suspected at clinical examination and confirmed via visualization of the hair shaft anomaly under a microscope. When the individual hair strands are viewed under a microscope, the hair is either triangular- or heart-shaped on cross-section and has a canal-like longitudinal groove along one or two faces.[5]  Confirmation is made when the characteristic appearance affects at least 50% of the scalp hair.
Last updated: 10/13/2008

Is there treatment for uncombable hair syndrome?

Symptoms of uncombable hair syndrome generally improve or disappear spontaneously with age. However, there was a 2007 study conducted by Boccaletti et al. in which two individuals were given oral biotin therapy. Boccaletti et al. reported that the hair appearance improved with treatment, although no structural changes were noted upon microscopic examination and the exact number of biotin cycles required to maintain hair appearance is unknown.[6]
Last updated: 10/13/2008

References
  • Trueb R. Orphanet Encyclopedia. September 2003; http://www.orpha.net/data/patho/GB/uk-uncombable.pdf. Accessed 10/9/2008.
  • Rieubland C, de Viragh PA, Addor MC. Uncombable hair syndrome: a clinical report. Eur J Med Genet. 2007 Jul-Aug;
  • Schena D, Germi L, Zamperetti MR, Darra F, Giacopuzzi S, Girolomoni G. Uncombable hair syndrome, mental retardation, single palmar crease and arched palate in a patient with neurofibromatosis type I. Pediatr Dermatol. 2007 Sep-Oct;
  • Kuhn CA, Helm TN, Bergfeld WF, McMahon JT. Acquired uncombable hair. Arch Dermatol. 1993;
  • Jarell AD, Hall MA, Sperling LC. Uncombable hair syndrome. Pediatr Dermatol. 2007 Jul-Aug;
  • Boccaletti V, Zendri E, Giordano G, Gnetti L, De Panfilis G. Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response of Biotin. Pediatr Dermatol. 2007 Apr 8;
Other Names for this Disease
  • Cheveux incoiffables
  • Pili trianguli et Canaliculi
  • Spun glass hair
  • Unmanageable hair syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.