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

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