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Diseases

Genetic and Rare Diseases Information Center (GARD)

Progressive osseous heteroplasia


Other Names for this Disease
  • POH
  • Familial ectopic ossification
  • Ectopic ossification familial type
  • Osteoma cutis
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Overview

Progressive osseous heteroplasia is an inherited condition in which bone forms within skin and muscle tissue. Bone that forms outside the skeleton is called heterotopic or ectopic bone. In this condition, ectopic bone formation begins in the deep layers of the skin (dermis and subcutaneous fat) and gradually moves into other tissues such as skeletal muscle and tendons. The bony lesions within the skin may be painful and may develop into open sores (ulcers). Over time, joints can become involved, resulting in impaired mobility. This condition is caused by mutations in the GNAS gene and is inherited in an autosomal dominant pattern.[1]
Last updated: 1/10/2013

References

  1. Progressive osseous heteroplasia . Genetics Home Reference. January 2009; http://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia. Accessed 12/19/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Progressive osseous heteroplasia. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive osseous heteroplasia. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • POH
  • Familial ectopic ossification
  • Ectopic ossification familial type
  • Osteoma cutis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.