An Autosomal Recessive Woolly Hair/Hypotrichosis Case With LIPH Mutation in a Turkish Patient

A 22-year-old Turkish female with autosomal recessive woolly hair/hypotrichosis (ARWH/H) was found to have a 98.5% homozygous pathogenic variant in the LIPH gene. This condition, characterized by tight curly hair in infancy and hypotrichosis in adulthood, involves mutations in genes like LIPH and LPAR6, which are crucial for hair follicle formation. The study highlights the importance of considering LIPH mutations in the differential diagnosis of similar hair conditions in Turkish patients. Despite recommendations, the patient's family declined further genetic testing and counseling.