Keratosis Palmaris et Plantaris: Overview

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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

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Table K-1 Diffuse Hereditary Palmoplantar Keratoderma without Associated Features

Usual Name

Synonyms

Typical Features

Genetics

Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK)

Diffuse NEPPK; Thost-Unna disease; PPK diffusa circumscripta

Onset: <2 years

Autosomal dominant

Palmoplantar hyperkeratosis, hyperhidrosis, thick nails

Mutation 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 hyperkeratosis

Mutation 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-Nielson

Gamborg-Nielson keratoderma

Mutilating constriction bands surrounding fingers

Autosomal recessive

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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

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Table K-2 Diffuse Hereditary Palmoplantar Keratoderma with Associated Features

Usual Name

Synonyms

Typical Features

Genetics

Meleda disease

Keratosis extremitatum hereditaria transgrediens et progrediens; Mal de Meleda; Mljet disease

Onset: early infancy

Autosomal recessive

Keratoderma with erythematous border, hyperhidrosis, periorbital erythema, lingua plicata, syndactyly, hairy palms and soles

Gene map locus: 8qter Greither variant: autosomal dominant

Palmoplantar keratoderma with periodontitis and onychogryposis

Haim Munk syndrome; prepubertal periodontitis syndrome

Onset: 1-5 years

Autosomal recessive

Periodontosis, disorder of leukocyte function (increased infections), hyperhidrosis, malodor, lipid-like vacuoles in corneocytes and granulocytes

Gene map locus: 11q14-q21

Palmoplantar keratoderma with periondotopathia

Papillon-Lefèvre syndrome

PPK mutilans Vohwinkel

Mutilating keratoderma; Vohwinkel syndrome; palmoplantar keratoderma mutilans

Onset: infancy

Autosomal dominant

Fibrous digital bands with progressive autoamputation, alopecia, deafness, spastic paraplegia, myopathy, ichthyosis

Gene map locus: 1q21

Palmoplantar keratoderma with sclerodactyly

Huriez syndrome

Onset: infancy

Autosomal dominant

Sclerodactyly, nail dystrophy, hypohidrosis, squamous cell carcinomas

Biopsy: acanthosis, orthohyperkeratosis

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

Olmsted syndrome

Onset: <1 year

Autosomal dominant

Onychodystrophy, periorificial keratosis, variable leukokeratosis

Hidrotic ectodermal dysplasia

Clouston syndrome

Onset: infancy

Autosomal dominant

Papillomatous PPK, dystrophic nails, sparse hair, deafness, polydactyly, syndactyly, mental retardation, short stature, photophobia, strabismus

Gene map locus: 13q11-q12.1

Caused by depletion of hair matrix protein

Palmoplantar keratoderma and cardiomyopathy

Naxos disease

Diffuse NEPPK, arrhythmogenic right ventricular cardiomyopathy, woolly hair

Gene map locus: 17q21

Diffuse NEPPK and sensorineural deafness

Progressive hearing loss preceding skin disorders

Autosomal dominant

Connexin 26 mutation

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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

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Table K-3 Focal (or Nummular) Hereditary Palmoplantar Keratoderma with Associated Features

Usual Name

Synonyms

Typical Features

Genetics

Pachyonychia congenita (four types described)

Type I: Jadassohn-Lewandowsky

Nail discoloration and thickening

Autosomal dominant (occasionally autosomal recessive)

Type II: Jackson-Lawler

Type 1: keratin 16 and 6a gene mutations

Type III: Schafer-Brunauer

Type II: keratin 17 and 6b gene mutations

Type IV

Oculocutaneous tyrosinemia

Richner-Hanhart disease; tyrosinemia type II

Painful keratosis, pseudoherpetic corneal ulcerations, mental retardation, bullous lesions (inconstant), increased levels of serum tyrosine

Autosomal recessive

Deletion of tyrosine aminotransferase gene (16q21.1-q22.3)

Keratosis palmoplantaris with esophageal cancer

Bennion Patterson syndrome; Clarke-Howell syndrome; Howel-Evans syndrome; tylosis with esophageal cancer

Onset: 2-4 years

Autosomal dominant

Hyperkeratosis of soles and palms with various malignancies

Gene map locus: 17q24

Focal palmoplantar and oral mucosa hyperkeratosis

Onset: early childhood

Autosomal dominant

Oral hyperkeratosis (sometimes subungual and circumungual)

Keratin 16 gene mutation

Paranuclear bodies in keratinocytes (condensations of tonofilaments)

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