Palmoplantar keratoderma, Nagashima type
Definition:
Palmoplantar keratoderma Nagashima type (PPKN) is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis characterized by diffuse hyperkeratosis with redness, expanding on to the dorsal surfaces of the palms and feet and the Achilles tendon area. Its clinical manifestations are similar to but milder than those of mal de Meleda. It has been reported that mutations in SERPINB7, encoding a member of the serine protease inhibitor, cause PPKN.
References:
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[1]. Akiharu Kubo, et al. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet. 2013 Nov 7;93(5):945-56. [Content Brief]
[2]. Kenji Kabashima, et al. "Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category. Arch Dermatol. 2008 Mar;144(3):375-9. [Content Brief]
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