Striation of bones in focal dermal hypoplasia: manifestation of functional mosaicism?

Abstract

Striation of the metaphyseal regions of the long bones, a characteristic feature of the focal dermal hypoplasia syndrome in patients, may be explained by functional X chromosome mosaicism. The following arguments favor this hypothesis: the striation of bones coincides with the zones of osteogenesis; the skin lesions are distributed in a linear pattern; and the syndrome is probably inherited as an X-linked dominant trait. The linear pattern of both skin and bone lesions could be due to random X inactivation.