Uncombable hair syndrome and beyond

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.