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.
With this experiment, they performed a process called immunoblotting and immunofluorescence. With immunoblotting, it appeared that the transfected cells had a marginally lower expression of the mutant compared to the wild-type. With immunofluorescence it resulted in an irregular intracellular location of the protein. Therefore, it helped conclude that there was a reduction in enzymatic action that encodes a protein to hair shaft arrangement, which relates to central centrifugal cicatricial alopecia(CCCA). Diagnosis
Differential diagnosis
Other syndromes with hair abnormalities may also show features of uncombable hair syndrome such as Rapp–Hodgkin ectodermal dysplasia syndrome, loose anagen syndrome, EEC syndrome (ectodermal dysplasia, ectrodactyly and cleft lip/palate) and familial tricho-odonto-onychial ectodermal dysplasia with syndactyly. However, unlike these conditions, uncombable hair syndrome alone is not associated with physical, neurologic, or mental abnormalities.According to the U.S. National Institute of Health, the condition tends to develop in childhood (age 3-12) and resolve by adolescence.Another observation that can be made when detecting uncombable hair syndrome in individuals is by observing the hair shaft under a special microscope. When individual hair strands are being viewed, the hair is triangular or kidney-shaped and has a longitudinal groove on one or two faces.Clinical diagnosis of UHS can be confirmed molecularly by performing high-resolution microscopy on hair shafts using scanning electron microscopy (SEM). SEM allows for the visualization of hair shaft cross-sections, which can appear triangular, heart-shaped, kidney-shaped, flat, or longitudinally grooved. Interestingly, multiple different cross sections can appear on a single shaft of hair.