Cole disease

Cole disease belongs to the congenital diseases with keratoderma punctata, and hyperkeratosis on the palms and soles of the feet. The disease is already manifested in infancy or the neonatal period.

The cause was found to be a mutation in the ENPP1 gene at the locus 6q23.2. The inheritance is autosomal dominant. The disease was diagnosed after the first description by Cole in only two other cases.