Progressive osseous heteroplasia (POH): an Egyptian patient

  • E El Sobky
  • SM El Sayed

Abstract

Progressive osseous heteroplasia is a rare genetic disorder characterized by cutaneous ossification during infancy and progressive ossification of subcutaneous and deep connective tissue including muscle and fascia during childhood. It is at the severe end of a spectrum of Guanine Nucleotide-binding protein, Alpha-Stimulating activity polypeptide (GNAS) associated ossification disorders that include osteoma cutis and Albright hereditary osteodystrophy. Here we describe a five year old boy with progressive ossification of skin and subcutaneous tissue and progressive limitation of movement of all joints. X-rays revealed extensive calcification of cutaneous and subcutaneous tissues involving nearly the whole body. As far as our knowledge, no cases have been reported before in the Middle East. Here we describe the first Egyptian child affected with this disorder.

Key Words: Progressive osseous heteroplasia, GNAS1 mutations, Heterotopic ossification.

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eISSN: 1110-8630