Two Siblings With Uncombable Hair Syndrome: A New Pathogenic Variant
March 2024
in “
Pediatric Dermatology
”
TLDR Two siblings have a rare hair condition caused by a new genetic variant.
Two siblings were diagnosed with uncombable hair syndrome, characterized by straw-colored, frizzy, and wiry hair, without any other abnormalities or family history of similar hair conditions. Trichoscopy confirmed the presence of a longitudinal groove in the hair shafts, a hallmark of the syndrome. Genetic analysis identified a novel pathogenic variant (c.1374dup; p. Val459ArgfsTer15) in the PADI3 gene, which had not been previously documented.
