Nidhi Kuchimanchi

De Novo KRT9 p.Leu458Pro in Infantile-Onset pEDD: Reclassification as Likely Pathogenic

KRT9-palmoplantar epidermal differentiation disorder (KRT9-pEDD) is a rare autosomal dominant genodermatosis, characterized by infantile-onset diffuse thickening of the palmoplantar epidermis with sharp erythematous margins and fissuring. This condition is caused by pathogenic variants in KRT9, which encodes keratin 9,...