Familial Uncombable Hair Syndrome: Ultrastructural Hair Study and Response to Biotin

The study reported on a family spanning four generations affected by uncombable hair syndrome, characterized by unruly, dry, blond hair with a tangled appearance, and suggested an autosomal dominant inheritance pattern. Some family members also exhibited minor signs of atopy and ectodermal dysplasia, such as nail abnormalities. Diagnosis was confirmed using scanning electron microscopy. A trial with oral biotin at 5 mg/day on two young patients resulted in excellent improvements in hair appearance, although no structural changes were observed in the hair. After 2 years of follow-up, hair normality was maintained without biotin, but nail fragility still required biotin supplementation for control.