Genetic Defects of Nails and Nail Growth

Adam Rubin1, Amy S. Paller2


Hundreds of genodermatoses show changes of the nails, most commonly among the ectodermal dysplasias. Among the more common nail disorders are: (i) pachyonychia congenita, a group of disorders caused by mutations in one of five keratin genes expressed in the nail matrix, which also features painful plantar keratoderma; (ii) dyskeratosis congenita, characterized by telomerase shortening leading to nail dystrophy, oral leukoplakia and poikiloderma with a high risk of bone marrow failure; (iii) nail–patella syndrome resulting from mutations in the LIMX1b transcription factor that disrupt the development of the nails, patella, elbow, pelvis and kidneys; and (iv) hereditary anonychia, due to mutations in R‐spondin 4.
Keywords pachyonychia congenita, dyskeratosis congenita, Hoyeraal–Hreidarsson syndrome, nail–patella syndrome, anonychia, nail dystrophy, ectodermal dysplasia, keratin, telomere, leukoplakia


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