Skip to Main Content

We have a new app!

Take the Access library with you wherever you go—easy access to books, videos, images, podcasts, personalized features, and more.

Download the Access App here: iOS and Android

Keratosis Palmaris et Plantaris: Overview

Diffuse hereditary palmoplantar keratoderma types without associated features are summarized in Table K-1.

Table K-1 Diffuse Hereditary Palmoplantar Keratoderma without Associated Features
View Table||Download (.pdf)
Table K-1 Diffuse Hereditary Palmoplantar Keratoderma without Associated Features
Usual NameSynonymsTypical FeaturesGenetics
Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) Diffuse NEPPK; Thost-Unna disease; PPK diffusa circumscripta Onset: <2 yearsAutosomal dominant
Palmoplantar hyperkeratosis, hyperhidrosis, thick nailsMutation in type II keratin locus (12q11-13)
Diffuse epidermolytic palmoplantar keratoderma (EPPK) Diffuse EPPK; Vorner disease; PPK cum degeneratione granulosa Onset: <1 year Autosomal dominant
Same phenotype as NEPPK but with epidermolytic hyperkeratosisMutation in 1A rod domain segment of the keratin 9 gene (chromosome 17)
Progressive palmoplantar keratoderma (PPPK) Greither disease, PPK transgrediens et progrediens Onset: 8-10 years Autosomal dominant
Extension onto dorsum of hands and feet, hyperhidrosis; improves after 50 years of age
Palmoplantar keratosis Gamborg-NielsonGamborg-Nielson keratodermaMutilating constriction bands surrounding fingersAutosomal recessive

Diffuse hereditary palmoplantar keratoderma types with associated features are summarized in Table K-2.

Table K-2 Diffuse Hereditary Palmoplantar Keratoderma with Associated Features
View Table||Download (.pdf)
Table K-2 Diffuse Hereditary Palmoplantar Keratoderma with Associated Features
Usual NameSynonymsTypical FeaturesGenetics
Meleda disease Keratosis extremitatum hereditaria transgrediens et progrediens; Mal de Meleda; Mljet diseaseOnset: early infancyAutosomal recessive
Keratoderma with erythematous border, hyperhidrosis, periorbital erythema, lingua plicata, syndactyly, hairy palms and solesGene map locus: 8qter Greither variant: autosomal dominant
Palmoplantar keratoderma with periodontitis and onychogryposisHaim Munk syndrome; prepubertal periodontitis syndrome Onset: 1-5 yearsAutosomal recessive
Periodontosis, disorder of leukocyte function (increased infections), hyperhidrosis, malodor, lipid-like vacuoles in corneocytes and granulocytesGene map locus: 11q14-q21
Palmoplantar keratoderma with periondotopathiaPapillon-Lefèvre syndrome
PPK mutilans VohwinkelMutilating keratoderma; Vohwinkel syndrome; palmoplantar keratoderma mutilansOnset: infancyAutosomal dominant
Fibrous digital bands with progressive autoamputation, alopecia, deafness, spastic paraplegia, myopathy, ichthyosisGene map locus: 1q21
Palmoplantar keratoderma with sclerodactyly Huriez syndromeOnset: infancyAutosomal dominant
Sclerodactyly, nail dystrophy, hypohidrosis, squamous cell carcinomas
Biopsy: acanthosis, orthohyperkeratosis
Mutilating palmoplantar keratoderma with periorificial keratotic plaquesOlmsted syndromeOnset: <1 year Autosomal dominant
Onychodystrophy, periorificial keratosis, variable leukokeratosis
Hidrotic ectodermal dysplasia Clouston syndromeOnset: infancy Autosomal dominant
Papillomatous PPK, dystrophic nails, sparse hair, deafness, polydactyly, syndactyly, mental retardation, short stature, photophobia, strabismusGene map locus: 13q11-q12.1
Caused by depletion of hair matrix protein
Palmoplantar keratoderma and cardiomyopathyNaxos diseaseDiffuse NEPPK, arrhythmogenic right ventricular cardiomyopathy, woolly hairGene map locus: 17q21
Diffuse NEPPK and sensorineural deafness Progressive hearing loss preceding skin disordersAutosomal dominant
Connexin 26 mutation

Focal (or nummular) hereditary palmoplantar keratoderma types with associated features are summarized in Table K-3.

Table K-3 Focal (or Nummular) Hereditary Palmoplantar Keratoderma with Associated Features
View Table||Download (.pdf)
Table K-3 Focal (or Nummular) Hereditary Palmoplantar Keratoderma with Associated Features
Usual NameSynonymsTypical FeaturesGenetics
Pachyonychia congenita (four types ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.

This site uses cookies to provide, maintain and improve your experience. MH Privacy Center Close