Progressive osseous heteroplasia - Report of a family

We report a case of progressive osseous heteroplasia in a female infant who had progressive ossification of the skin and deep connective tissues. Isol ated dermal ossification is present in her father and younger sister sugges ting an autosomal dominant mode of inheritance with variable expressivity o r possible somatic mosaicism, This report of a family with progressive osse ous heteroplasia contributes to the understanding of this uncommon genetic disorder, which must be distinguished from fibrodysplasia ossificans progre ssiva and Albright's hereditary osteodystrophy. The paucity of familial cas es of progressive osseous heteroplasia currently limits the use of a genome -wide linkage analysis, but linkage exclusion analysis with promising candi date genes is a possibility.