Familial ectopic ossification
- Resource Type
- Authors
- K. Yun; R. J. M. Gardner; S. M. Craw
- Source
- Subject
- Male
Skin Neoplasms
Choristoma
Progressive osseous heteroplasia
Bone and Bones
Germline mutation
Genetics
Medicine
Humans
Clinical significance
Osteoma cutis
Familial ectopic ossification
Child
Osteoma
Genetics (clinical)
Genes, Dominant
business.industry
Ossification, Heterotopic
Homozygote
Soft tissue
Infant
Anatomy
medicine.disease
Pedigree
body regions
Radiography
Female
business
Research Article
- Language
- English
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.