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Palmoplantar keratoderma-deafness syndrome

ORPHA2202
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
ICD-10
  • Q82.8
OMIM
UMLS
  • C1835672
MeSH
  • C536152
MedDRA -

Summary

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.


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