title: Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.
abstract: A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness association.
authors.affiliation: Department of Genetics, St George's Hospital Medical School, London.
authors.forename: M
authors.initials: M
authors.lastname: Sharland
authors.forename: N R
authors.initials: NR
authors.lastname: Bleach
authors.forename: P D
authors.initials: PD
authors.lastname: Goberdhan
authors.forename: M A
authors.initials: MA
authors.lastname: Patton
mesh_terms: D000328:Adult; D000368:Aged; D002675:Child, Preschool; D003638:Deafness / Q000150:complications / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006316:Hearing Loss, High-Frequency / Q000150:complications / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000235:genetics; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000150:complications / Q000235:genetics*; D008297:Male; D010375:Pedigree