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.