Multiple pilomatrixomata and myotonic dystrophy: a familial association

The association of pilomatrixoma and myotonic dystrophy has been described in the past in 13 publications in the English literature. The association s eems to involve the development of pilomatrixomata before signs of myotonic dystrophy. Myotonic dystrophy is the commonest adult dystrophy and is an a utosomal-dominant disease with a variable phenotypic penetrance. The diseas e is determined by a genetic locus on chromosome 19q and can be diagnosed u sing methods of DNA testing. We describe the 25th case of a patient with bo th conditions together with a review of the literature. To our knowledge, n o other patient has had such a large number of histologically proven piloma trixomata.