An alternative method for confirming a UHS diagnosis molecularly is by embedding UHS hairs into paraffin. Due to the atypical shape of the hair shafts in UHS, UHS hair will refract light differently than typical hair, causing a glistening effect. Treatment
Although it tends to regress naturally later in childhood, there is no definitive treatment for Uncombable Hair Syndrome. The only recommended treatment is using soft brushes and gentle conditioners. It is also recommended to avoid hair treatments that can be harsh on hair (excessive brushing, blow drying, perms, or coloring hair). Biotin supplements have also been used as a treatment, due to their historical utility in controlling nail fragility and improving hair growth after 4 months of supplementation. Epidemiology
While UHS is thought to be extremely rare, its precise frequency and prevalence is unknown. As of 2016, there were ~100 case studies of UHS in the scientific literature, and as of 2020, there are a few more documented case studies.UHS has been found in patients who also have diseases such as ectodermal dysplasia and loose anagen hair syndrome. While sometimes observed with other disorders, it is believed that Uncombable Hair Syndrome is an isolated disease. History
The syndromes name comes directly from its abnormal, frizzy appearance that “totally resists any effort to control it with brush or comb.” A possible case of uncombable hair syndrome was reported in 1912 by A.F. Le Double and F. Houssay. The syndrome was described in 1973 by A. Dupré, P. Rochiccioli, and J.L. Bonafé, who named it "cheveux incoiffables".
Uncombable hair syndrome (UHS) is a rare structural anomaly of the hair with a variable degree of effect. It is characterized by hair that is silvery, dry, frizzy, wiry, and impossible to comb. It was first reported in the early 20th century. It typically becomes apparent between the ages of 3 months and 12 years. UHS has several names, including "pili trianguli et canaliculi," "cheveux incoiffables," and "spun-glass hair." This disorder is believed to be autosomal recessive in most instances, but there are a few documented cases where multiple family members display the trait in an autosomal dominant fashion. Based on the current scientific studies related to the disorder, the three genes that have been causally linked to UHS are PADI3, TGM3, and TCHH. These genes encode proteins important for hair shaft formation. Clinical symptoms of the disorder arise between 3 months and 12 years of age. The quantity of hair on the head does not change, but hair starts to grow more slowly and becomes increasingly "uncombable." To be clinically apparent, 50% of all scalp hair shafts must be affected by UHS. This syndrome only affects the hair shaft of the scalp and does not influence hair growth in terms of quantity, textural feel, or appearance on the rest of the body. Presentation
The hair is normal in quantity and is usually silvery-blond or straw-colored. It is disorderly, stands out from the scalp, and cannot be combed flat, but it can be controlled by braiding methods.