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Progressive osseous heteroplasia (POH) is an ultra-rare genetic disorder characterized with ectopic subcutaneous ossifications progressively involving deep connective tissues and skeletal muscles in early ages. Most cases of POH are caused by heterozygous inactivating mutations of GNAS, the gene encoding the alpha subunit of the G-stimulatory protein of adenylyl cyclase. Recently, POH is classified in a group of disorders with common findings of parathyroid hormone (PTH) resistance syndromes-inactivating PTH/PTHrP signaling disorder (iPPSD). The most probable pathophysiological reasons are sporadic or autosomal dominantly inherited genetic mutations and/or epigenetic, genetic-based alterations, within or upstream of GNAS, PRKAR1A (Protein Kinase cAMP-Dependent type I regulatory subunit alpha), PDE4D (phosphodiesterase 4D), or PDE3A (phosphodiesterase 3A) genes. In this article, we reported a 21-year-old female patient was diagnosed as progressive osseous heteroplasia in infancy due to skin stiffness. Her father and father’s aunt had subcutaneous nodules. The patient was admitted to emergency department with the complaint of dyspnea, vomiting and difficulty in swallowing. There was severe immobility of the upper extremity and axial skeleton due to abnormal ossification of the joints, bone and soft tissue. In our case there were not any hormone resistance in laboratory tests including PTH. Genetic analyses of this patient were negative for ACVR1, GNAS, PRKAR1A, PDE4D and PDE3A. All of the POH cases have to evaluate together with diagnostic criteria, clinical findings and genetic results. Follow-up is very important in these patients for reevaluating of pathogenesis and applying of developing treatment procedures. |
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