Progressive osseous heteroplasia in a 10-year-old male child

We report a sporadic case of progressive osseous heteroplasia (POH) in a 10-year-old male child who developed progressive ossification of the skin and deep connective tissue. The condition needs to be distinguished from other causes of childhood heterotopic ossification, such as fibrodysplasia ossificans progressiva, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism. The cause of POH is an inactivating GNAS1 (guanine nucleotide-binding protein alpha-stimulating activity polypeptide 1) mutation caused only by paternal inheritance of the mutant allele. Most cases are sporadic and only 2 instances of familial transmission have been documented, suggesting an autosomal dominant mode of inheritance with possible somatic mosaicism. The condition is associated with progressive superficial to deep ossification, progressive restriction of range of motion, bleak prognosis, and recurrence if excised.