Uncombable hair syndrome

Información en español Title

Other Names:

Pili trianguli et Canaliculi; Cheveux incoiffables; Unmanageable hair syndrome; Pili trianguli et Canaliculi; Cheveux incoiffables; Unmanageable hair syndrome; Spun glass hair See More

Categories:

Congenital and Genetic Diseases; Skin Diseases

Summary Summary

Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It is usually 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 in some cases it has been described in association with other diseases, such as ectodermal dysplasias, Bork syndrome and Angel-shaped phalangoepiphyseal dysplasia. The syndrome has been found to be caused by mutations in the genes PADI3, TGM3, and TCHH. These three genes code for proteins that are involved in hair shaft formation.^[2] The syndrome appears to be inherited in an autosomal recessive fashion; however, cases inherited in an autosomal dominant manner may also exist, as there are other genes involved in hair formation. The condition often spontaneously regresses in late childhood.^[3] Some published studies suggest that biotin may improve the condition.^[4]

Last updated: 12/19/2016

Symptoms Symptoms

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.^[5] 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]^[6]

In cases where UHS is part of a syndrome, there may be other signs and symptoms present; therefore, it is important to determine whether the UHS is isolated or syndromic.

Last updated: 12/19/2016

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Coarse hair	Very frequent (present in 80%-99% of cases)
Trichodysplasia	Very frequent (present in 80%-99% of cases)
White hair	Very frequent (present in 80%-99% of cases)
Woolly hair	Very frequent (present in 80%-99% of cases)
Alopecia areata	Occasional (present in 5%-29% of cases)
Autosomal dominant inheritance	-
Pili canaliculi	-
Uncombable hair	-

Last updated: 7/1/2017

Cause Cause

Three genes have been associated with uncombable hair syndrome (UHS): PADI3, TGM3, and TCHH. These three genes code for proteins responsible for the formation of the hair shaft. In these cases, the mode of inheritance appears to be autosomal recessive. Nonetheless, other cases in which multiple family members have the condition seem to be inherited in an autosomal dominant fashion and may be caused by other genes that have yet to be identified. In the majority of cases, UHS is isolated and is not part of a syndrome. The syndromic forms of UHS are caused by other genes.

Last updated: 12/19/2016

Inheritance Inheritance

Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal recessive fashion; however, there are likely cases in which the condition is 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: 12/19/2016

Diagnosis Diagnosis

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. The recent discovery of the genes associated with the condition may lead to genetic testing in the future.

Last updated: 12/19/2016

Testing Resources

Orphanet lists international laboratories offering diagnostic testing for this condition.

Treatment Treatment

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.^[6]

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.^[6]

Last updated: 12/19/2016

Prognosis Prognosis

Uncombable hair syndrome (UHS) usually resolves on its own (spontaneously) by adolescence.^[6] Treatment is usually not necessary.^[1] In the cases, where UHS is part of syndrome, the prognosis will depend on the specific syndrome and the signs and symptoms present in the person.

Last updated: 12/19/2016

Do you have updated information on this condition? Let us know.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

British Association of Dermatologists
19 Fitzroy Square
London, UK W1T 6EH
United Kingdom
Telephone: 0207 383 0266
Fax: 0207 388 5263
E-mail: admin@bad.org.uk
Website: http://www.bad.org.uk
National Foundation for Ectodermal Dysplasias
6 Executive Drive
Suite 2
Fairview Heights, IL 62258-1360
Telephone: 618-566-2020
Fax: +1-618-566-4718
E-mail: info@nfed.org
Website: http://nfed.org/
The Ectodermal Dysplasia Society
Unit 1 Maida Vale Business Centre
Leckhampton
Cheltenham
Gloucestershire GL53 7ER
United Kingdom
Telephone: +44 (0) 1242 261332
E-mail: diana@ectodermaldysplasia.org
Website: http://www.ectodermaldysplasia.org/

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
Genetics Home Reference (GHR) contains information on Uncombable hair syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
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.
Orphanet
Orphanet
PubMed is a searchable database of medical literature and lists journal articles that discuss Uncombable hair syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

My daughter has all symptoms of UHS. Do most children grow out of it? Is there any product that can help? And what age would she typically grow out of it? Lastly, should we get a test or visit the doctor to get a diagnosis? See answer
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? See answer

Have a question? Contact a GARD Information Specialist.

References References

Ralph Trüeb. Uncombable hair syndrome. Orphanet Encyclopedia. September 2003; http://www.orpha.net/data/patho/GB/uk-uncombable.pdf.
Basmanav, FBÜ & cols. Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome. The American Journal of Human Genetics. 2016; 99(6):1292-1304. http://www.cell.com/ajhg/abstract/S0002-9297(16)30440-2.
Alexander Navarini. Uncombable hair syndrome. Orphanet. January, 2012; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1410.
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;
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. https://www.ncbi.nlm.nih.gov/pubmed/19700017.
Jarell AD, Hall MA, Sperling LC. Uncombable hair syndrome. Pediatr Dermatol. 2007 Jul-Aug; 24(4):436-438. https://www.ncbi.nlm.nih.gov/pubmed/17845183.
Carol A. Bocchini. Uncombable hair syndrome. OMIM. April 5, 2011; http://www.omim.org/entry/191480.