Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

Palmoplantar keratoderma-deafness syndrome

Synonym(s) PPK-deafness syndrome
Palmoplantar hyperkeratosis-deafness syndrome
Palmoplantar hyperkeratosis-hearing loss syndrome
Palmoplantar keratoderma-hearing loss syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
or Mitochondrial inheritance
Age of onset Childhood
  • Q82.8
  • C1835672
  • C536152
MedDRA -


Disease definition

Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma (see these terms). A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans (see these terms) may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype. The disease is transmitted in an autosomal dominant manner with incomplete penetrance.

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.