Uncombable hair syndrome and beyond

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    TLDR Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
    Uncombable hair syndrome (UHS) is a condition that presents with frizzy hair in early childhood and can involve the nervous system, eyes, and ears. The syndrome is linked to mutations in three genes: PADI3, TGM3, and TCHH, which are crucial for hair follicle formation and strength. A review of 127 cases showed that hair defects were reported in two-thirds of cases, with changes in hair texture (83%), color (52%), density (15%), and growth (11%). UHS may co-occur with other hair conditions and can also present with skin, nail, and teeth pathologies in 63%, 28%, and 25% of cases, respectively. Systemic abnormalities, including dysmorphic features, neuropsychiatric/developmental issues, ophthalmic and otic manifestations, and cardiopulmonary issues, were also reported. Molecular genetic analysis is recommended for all patients to identify genotype-phenotype correlations.
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