Title of article :
Progressive osseous heteroplasia (POH): an Egyptian patient
Author/Authors :
El Sobky, Ezzat Ain Shams University - Children s hospital - Genetics Unit, Egypt , El Sayed, Solaf M. Ain Shams University - Children s hospital - Genetics Unit, Egypt
Abstract :
Progressive osseous heteroplasia is a rare genetic disorder characterized by cutaneousossification during infancy and progressive ossification of subcutaneousand 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 disordersthat include osteoma cutis and Albright hereditary osteodystrophy. Here we describe a five year old boy with progressive ossification of skin and subcutaneoustissue and progressive limitation of movement of all joints. X-rays revealedextensive 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.
Keywords :
Progressive osseous heteroplasia , GNASI mutations , Heterotopic ossification.
Journal title :
Egyptian Journal of Medical Human Genetics
Journal title :
Egyptian Journal of Medical Human Genetics