Part 6, Chapter 69: Genetic Defects of Nails and Nail Growth
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Genetic Defects of Nails and Nail Growth
Overview
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
