Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis
Progressive osseous heteroplasia (POH) is a rare autosomal-dominant hereditary bone disorder caused by inactivating pathogenic variants in <i>GNAS1</i>. POH is characterized by progressive cutaneous ossification and heterotopic ossification in skeletal muscles and subdermal connective tissues. Understanding of the natural history and phenotypic heterogeneity of the illness is incomplete. We report 2 affected male subjects with a milder than usual clinical course, highlight their clinical presentations and molecular correlates, and propose sodium <sup>18</sup>F-fluorine positron emission tomography (PET) scanning as a sensitive technique for POH diagnosis and management.
Authors
- Stephen G. Kaler (ORCID: https://orcid.org/0000-0002-7522-926X)
- Summit Shah (ORCID: https://orcid.org/0000-0001-8061-8959)
- John D. Mahan (ORCID: https://orcid.org/0000-0001-5175-1339)
- Minh Tu Pham (ORCID: https://orcid.org/0000-0001-6799-5899)
- Steven Estes (ORCID: https://orcid.org/0000-0001-8632-1080)
Institutions
- Nationwide Children's Hospital (US)
- Columbia University (US)
Publication Details
- Journal
- JCEM Case Reports
- Published
- 2025-02-10
- DOI
- https://doi.org/10.1210/jcemcr/luae204
- Primary Topic
- Heterotopic Ossification and Related Conditions
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Nationwide Children's Hospital
- Research Institute, Nationwide Children's Hospital