Focal nonepidermolytic palmoplantar keratoderma

Definition:

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.

References:

[1]. F J Smith, et al. Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma. Exp Dermatol. 2000 Jun;9(3):170-7. [Content Brief]

[2]. M K Shamsher, et al. Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families. Hum Mol Genet. 1995 Oct;4(10):1875-81. [Content Brief]

[3]. Yuqing He, et al. A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family. J Invest Dermatol. 2015 Mar;135(3):907-909. [Content Brief]

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