Clinical and genetic features, surgical management, and longitudinal follow-up in two children with progressive osseous heteroplasia.

A possible postzygotic mosaic GNAS variant in one child with POH was associated with localized ossification and slow recurrence over five years.

• Why it matters: Understanding genetic and clinical features of POH is crucial due to its rarity and limited guidance on surgical management, especially regarding lesion distribution and resectability.
• What they did: Two children with POH underwent genetic testing—including whole-exome sequencing and PCR-Sanger sequencing—and surgical treatment, with follow-up durations of five years for one and limited radiographs for the other.
• The result: Findings suggest lesion distribution and resectability influence surgical outcomes, but the relationship between mosaic burden and ossification extent remains hypothetical, requiring larger studies.