Uncombable hair syndrome and beyond
January 2022
in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)”

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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