Progressive extreme heterotopic calcification
Article first published online: 17 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1706–1713, July 2013
How to Cite
2013. Progressive extreme heterotopic calcification. Am J Med Genet Part A 161A:1706–1713., , , , , , , , .
- Issue published online: 19 JUN 2013
- Article first published online: 17 MAY 2013
- Manuscript Accepted: 18 FEB 2013
- Manuscript Received: 8 JAN 2013
- ectopic calcification;
- fibrodysplasia ossificans progressiva
The formation of ectopic calcifications in soft tissues can occur either sporadically or as a genetically determined condition, and is seen only infrequently. We report on a girl in whom widespread, rapidly progressive ectopic calcifications were detected shortly after birth. Calcifications became present around all joints, tendons and ligaments, but did not involve internal organs and skin, and eventually caused almost complete immobility of the child at 2 years. There were no other health problems and cognitive development was normal. We compare the manifestations in the child to the characteristics of known entities causing ectopic calcifications and conclude the child differs to each. Laboratory evaluation failed to identify autoimmune phenomena as well as calcium metabolism or other biochemical abnormalities; molecular studies did not identify occurrence of mutations in disease genes known to be involved in ectopic calcifications. We conclude the manifestations in the child represent an unreported entity of hitherto unknown etiology. © 2013 Wiley Periodicals, Inc.