Familial ectopic ossification.
We report a family with dominantly inherited ectopic ossification. It is characterised by childhood onset of multifocal subcutaneous ossifications (primary osteoma cutis), which are of trivial clinical significance. One family member had extensive ectopic ossification involving one limb. We speculate that this may reflect somatic mutation having caused conversion to homozygosity.
D001842:Bone and Bones; D002648:Child; D002828:Choristoma / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D005260:Female; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009999:Ossification, Heterotopic / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011859:Radiography; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology