Two Siblings With Uncombable Hair Syndrome: A New Pathogenic Variant

    March 2024 in “ Pediatric Dermatology ”
    Carlos Calvo‐Asín, Sara Isabel Palencia Pérez, Juan Francisco Quesada‐Espinosa, Jose Puig‐Buendia, Raquel Cavestany‐Rodríguez, Virginia Velasco‐Tamariz
    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.
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