Building Models for Keratin Disorders

Researchers Lessard and Coulombe developed a Krt16-deficient mouse model to study palmoplantar keratoderma, a key feature of pachyonychia congenita (PC) and focal non-epidermolytic palmoplantar keratoderma (FNEPPK). These mice exhibited reduced birth weight, high early postnatal mortality due to hyperplastic tongue lesions, and developed painful calluses on their paws, mirroring human symptoms. The study suggested that both mutant and absent KRT16 proteins lead to similar palmoplantar lesions, highlighting the importance of KRT16 in skin structure and function. However, the Krt16-null mice did not show other PC characteristics like nail dystrophy, indicating different underlying mechanisms for various symptoms.