Epidermolytic palmoplantar keratoderma

Definition:

Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant dermatosis that presents within the first year of life. Patients have diffuse thickening of the skin on the palms and soles with yellow discoloration and erythematous margins. Mutations are identified in KRT9. Mild form of EPPK is linked to KRT1.

References:

[1]. Frances Smith, et al. The molecular genetics of keratin disorders. Am J Clin Dermatol. 2003;4(5):347-64. [Content Brief]

[2]. J A Rothnagel, et al. Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science. 1992 Aug 21;257(5073):1128-30. [Content Brief]

[3]. Markus Braun-Falco, et al. Hereditary palmoplantar keratodermas. J Dtsch Dermatol Ges. 2009 Nov;7(11):971-84; quiz 984-5. [Content Brief]

[4]. Virendra N Sehgal, et al. Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report. Skinmed. 2004 Nov-Dec;3(6):323-30; quiz 331-2. [Content Brief]

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