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Diseases

Genetic and Rare Diseases Information Center (GARD)

Uncombable hair syndrome


Other Names for this Disease
  • Pili trianguli et Canaliculi
  • Cheveux incoiffables
  • Unmanageable hair syndrome
  • Spun glass hair
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 (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age.[1] Most cases are isolated,  but has been described in association with other diseases, such as ectodermal dysplasias, Bork syndrome and Angel-shaped phalangoepiphyseal dysplasia. UHS is likely inherited in an autosomal dominant manner with reduced penetrance A responsible gene has not yet been identified.[2][3] The condition often spontaneously regresses in late childhood.[3]
Last updated: 2/17/2016

What are the signs and symptoms of uncombable hair syndrome?

Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years.[3] It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly.[4] Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat.[3]  In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement.[1][5]
Last updated: 2/17/2016

When do the symptoms of uncombable hair syndrome first appear?

The symptoms of uncombable hair syndrome usually appear during infancy, and rarely after adolescence.[6] The symptoms tend to be apparent from 3 months to 12 years of age, as symptoms tend to improve or disappear with age.[4]
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.[4] 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).[6] 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.[4]
Last updated: 10/13/2008

What causes uncombable hair syndrome?

The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair.[1]

While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.
Last updated: 2/17/2016

Is uncombable hair syndrome inherited?

Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance.

Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family.

While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.[1]
Last updated: 2/17/2016

How is uncombable hair syndrome diagnosed?

A diagnosis of uncombable hair syndrome (UHS) is made by observing the characteristic symptoms of the condition, as well observing the hair shaft under a special microscope.[3] When the individual hair strands are viewed under a microscope, the hair is either triangular or kidney-shaped on cross section, and has a canal-like longitudinal groove along one or two faces.[7][1] People with concerns about symptoms of UHS are encouraged to speak with their dermatologist about being evaluated for this condition.
Last updated: 2/17/2016

How might uncombable hair syndrome be treated?

There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. These strategies may improve the general manageability of the hair, although how well they work is subjective.[5]

Another strategy that has been suggested to improve the appearance of the hair is the use of biotin supplements. One case report suggested significant improvement in hair strength and combability, with an increase in rate of growth after 4 months of supplementation.[5]
Last updated: 2/18/2016

References
  • Ralph Trüeb. Uncombable hair syndrome. Orphanet Encyclopedia. September 2003; http://www.orpha.net/data/patho/GB/uk-uncombable.pdf.
  • Carol A. Bocchini. Uncombable hair syndrome. OMIM. April 5, 2011; http://www.omim.org/entry/191480.
  • Alexander Navarini. Uncombable hair syndrome. Orphanet. January, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410.
  • Rieubland C, de Viragh PA & Addor MC. Uncombable hair syndrome: a clinical report. Eur J Med Genet. 2007 Jul-Aug; http://www.ncbi.nlm.nih.gov/pubmed/17526443.
  • Calderon P, Otberg N, Shapiro J. Uncombable hair syndrome. J Am Acad Dermatol. September, 2009; 61(3):512-515.
  • 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;
  • Jarell AD, Hall MA, Sperling LC. Uncombable hair syndrome. Pediatr Dermatol. 2007 Jul-Aug;
Other Names for this Disease
  • Pili trianguli et Canaliculi
  • Cheveux incoiffables
  • Unmanageable hair syndrome
  • Spun glass hair
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.