Genetic disorders of heterotopic ossification: Fibrodysplasia ossificans progressiva and progressive osseous heteroplasia

Frederick S. Kaplan, Robert Pignolo, Mona Al Mukaddam, Eileen M. Shore

Research output: Chapter in Book/Report/Conference proceedingChapter

2 Scopus citations

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes, and progressive heterotopic endochondral ossification (HEO) in characteristic anatomical patterns. HEO may also occur sporadically following joint replacement, central nervous system trauma, athletic injury, war wounds, atherosclerosis, and valvular heart disease. Bony masses from FOP immobilize joints and cause contractures and deformity. Ossification around the hips, typically present by the third decade of life, often prevents ambulation. Skeletal anomalies and soft-tissue ossification are radiological hallmarks of FOP. Bone scintigraphy detects abnormalities in soft tissue before HEO can be demonstrated radiographically. Removal of FOP lesions is often followed by significant recurrence of HEO. As with FOP, progressive osseous heteroplasia (POH) is an autosomal dominant genetic disorder of heterotopic ossification. POH commonly begins in the dermis and progresses to deeper tissues by an intramembranous, rather than an endochondral, pathway.

Original languageEnglish (US)
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Publisherwiley
Pages865-870
Number of pages6
ISBN (Electronic)9781119266594
ISBN (Print)9781119266563
DOIs
StatePublished - Jan 1 2018
Externally publishedYes

Keywords

  • Bone scintigraphy
  • Fibrodysplasia ossificans progressiva
  • Genetic disorder
  • Heterotopic endochondral ossification
  • Progressive osseous heteroplasia
  • Skeletal anomalies

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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  • Cite this

    Kaplan, F. S., Pignolo, R., Mukaddam, M. A., & Shore, E. M. (2018). Genetic disorders of heterotopic ossification: Fibrodysplasia ossificans progressiva and progressive osseous heteroplasia. In Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism (pp. 865-870). wiley. https://doi.org/10.1002/9781119266594.ch112