Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis
Paediatrics
Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis
Paediatrics

Late-Onset Progressive Osseous Heteroplasia: 2 Unrelated Cases and Use of Positron Emission Tomography for Diagnosis

JCEM Case Rep. 2025 Feb 25;3(3):luae204. doi: 10.1210/jcemcr/luae204. eCollection 2025 Mar.

ABSTRACT

Progressive osseous heteroplasia (POH) is a rare autosomal-dominant hereditary bone disorder caused by inactivating pathogenic variants in GNAS1. 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 18F-fluorine positron emission tomography (PET) scanning as a sensitive technique for POH diagnosis and management.

PMID:40008392 | PMC:PMC11850303 | DOI:10.1210/jcemcr/luae204