Progressive osseous heteroplasia: a case report and literature review

To investigate the clinical features and pathogenesis of progressive osseous heteroplasia (POH) in children.

The clinical features and imaging findings of a child with POH are described, and family investigations and gene comparisons were performed, followed by a literature review.

A 9-year-old female with no relevant family medical history initially presented with ectopic ossification of the skin and subcutaneous tissue of the right face that developed slowly. The ossification area extended to the right waist, back, and right knee. The unilateral body (limbs) was gradually invaded. The patient exhibited limited movement of the head, neck, and left shoulder joint, and experienced difficulty in opening her mouth. She also exhibited deformity of the toe, delayed development, insufficient language skills and behavioral ability, and difficulty in communicating with others, but had no apparent endocrine disorders. Blood calcium, phosphorus, and alkaline phosphatase levels were normal, and DNA sequencing did not yield a positive result.

The clinical manifestations of POH include hard plaques, which can develop deep into the bone; however, there are currently no effective preventive or treatment measures.