Progressive osseous heteroplasia: Diagnosis, treatment, and prognosis

Robert Pignolo, Girish Ramaswamy, John T. Fong, Eileen M. Shore, Frederick S. Kaplan

Research output: Contribution to journalReview article

35 Scopus citations


Progressive osseous heteroplasia (POH) is an ultrarare genetic condition of progressive ectopic ossification. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. POH is part of a spectrum of related genetic disorders, including Albright hereditary osteodystrophy, pseudohypoparathyroidism, and primary osteoma cutis, that share common features of superficial ossification and association with inactivating mutations of GNAS. The genetics, diagnostic criteria, supporting clinical features, current management, and prognosis of POH are reviewed here, and emerging therapeutic strategies are discussed.

Original languageEnglish (US)
Pages (from-to)37-48
Number of pages12
JournalApplication of Clinical Genetics
StatePublished - Jan 15 2015
Externally publishedYes



  • GNAS
  • Heterotopic ossification
  • Progressive osseous heteroplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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