Palmoplantar keratoderma, Bothnian type
Definition:
Palmoplantar keratoderma, Bothnian type (PPKB) is one of the non-epidermolytic palmoplantar keratoderma. PPKB was initially reported to be prevalent in the north of Sweden, along the Gulf of Bothnia. The clinical characteristics of PPKB include diffuse, homogeneous, and even palmoplantar hyperkeratosis with swollen stratum corneum, which distinctively exhibits a whitish spongy appearance upon exposure to water. PPKB is the autosomal-dominant disorder caused by mutations in the aquaporin 5 gene, AQP5.
References:
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[1]. Diana C Blaydon, et al. Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet. 2013 Aug 8;93(2):330-5. [Content Brief]
[2]. Xu Cao, et al. Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type. J Invest Dermatol. 2014 Jan;134(1):284-287. [Content Brief]
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