Uncombable hair syndrome
https://rarediseases.info.nih.gov/diseases/5404/uncombable-hair-syndrome
Other Names:
Pili trianguli et Canaliculi; Cheveux incoiffables; Unmanageable hair syndrome; See More
Categories:
Congenital and Genetic Diseases; Skin Diseases
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
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
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Donnie has phantom hair syndrome.
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