A case of progressive osseous heteroplasia: a first case in Japan
Progressive osseous heteroplasia (POH) is a rare, hereditary, disorder (number 166350 in Mendelian Inheritance in Man), which was first identified in 1994 and is characterized by dermal ossification beginning in infancy as a result of increasing and extensive bone formation in deep muscle and fascia. We describe a boy with typical clinical, radiographic, and genetic features of POH. A nonsense mutation in exon 7 of the GNASl gene was identified in genomic DNA from the patient. No such case has been reported in East Asia or Japan before this patient.
KeywordsProgressive osseous heteroplasia GNAS1 deletion Radiographic findings Heterotopic ossification