Focal nonepidermolytic palmoplantar keratoderma (FNEPPK) is a genetically heterogeneous phenotype characterized by the presence, on the palms and soles, of circumscribed calluses. These can be painful. It has been reported that mutations in keratin 16 (KRT16) and TRPV3 gene cause FNEPPK. Both of them are inherited in an autosomal dominant manner.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic or developmental disorders affecting the skin
EC20 Genetic disorders of keratinisation
H02263 Focal nonepidermolytic palmoplantar keratoderma
He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K
Title
A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
