Osteopoikilosis: Pain as a Presenting Symptom in Three Family Members

Osteopoikilosis is a rare asymptomatic sclerosing bony dysplasia of benign origin. It is usually found incidentally on radiological examinations. Familial occurrence indicates a genetic milieu with autosomal dominant pattern. Here, we present a case report of a young woman suffering from pelvic pain due to osteopoikilosis (OPK). The same disorder was later found in her son and daughter

Management of subtrochanteric femur fractures with internal fixation and recombinant human bone morphogenetic protein-7 in a patient with osteopetrosis: a case report

<p>Abstract</p> <p>Introduction</p> <p>Osteopetrosis is a group of conditions characterized by defects in the osteoclastic function of the bone resulting in defective bone resorption. Clinically, the condition is characterized by a dense, sclerotic, deformed bone which, despite an increased density observable by radiography, often results in an increased propensity to fracture and delayed union.</p> <p>Case Presentation</p> <p>We report the case of a 27-year-old Asian man presenting with bilateral subtrochanteric femur fractures. He had a displaced right subtrochanteric femur fracture after a low-energy fall, which was treated surgically. The second fracture that our patient endured was diagnosed as a stress fracture ten weeks later when he complained of pain in the contralateral left thigh. By that time, the right-sided fracture exhibited no radiographic evidence of healing, and when the left-sided stress fracture was being treated surgically, bone grafting with recombinant human bone morphogenetic protein-7 was also performed on the right side.</p> <p>Conclusion</p> <p>While there are no data supporting the use of bone morphogenic proteins in the management of delayed healing in patients with osteopetrosis, no other reliable osteoinductive grafting options are available to treat this condition. Both fractures in our patient healed, but based on the serial radiographic assessment it is uncertain to what degree the recombinant human bone morphogenetic protein-7 may have contributed to the successful outcome. It may have also contributed to the formation of heterotopic bone around the fracture site. Further investigation of the effectiveness and indications of bone morphogenic protein use for the management of delayed fracture healing in patients with osteopetrosis is warranted.</p