Summary

Keratoderma palmoplantar with deafness is a syndrome characterised by the association of progressive perceptive hearing loss and non-epidermolytic palmoplantar keratoderma. About ten families with several affected individuals from two to five generations have been reported. Bilateral, high-frequency sensorineural hearing loss begins in early childhood, while progressive hyperkeratosis of the palms and soles starts in mid-childhood. The penetrance of both features is incomplete: in the families reported, some patients displayed only sensorineural hearing loss, whereas others had only hyperkeratosis. Genetic heterogeneity is likely: on the one hand the disease appears to be inherited in an autosomal dominant manner and caused by a mutation in a gene on chromosome 13q11-q12 encoding connexin-26, whereas on the other hand a mitochondrial point mutation (7445A-G) has been identified in families in which affected members were maternally related.