Surgical treatment of femoral deformities in polyostotic fibrous dysplasia and McCune-Albright syndrome:A literature review

BACKGROUND Surgical correction of femoral deformities in polyostotic fibrous dysplasia(PFD)or McCune-Albright syndrome(MAS),such as coxa vara or shepherd’s crook deformity,is a challenge.AIM To evaluate the treatment of patients with femoral deformities caused by PDF or MAS treated by osteotomies and stabilized with different methods,by analyzing the most relevant studies on the topic.METHODS A literature search was performed in Medline database(PubMed).Articles were screened for patients affected by PFD or MAS surgically managed by osteotomies and stabilized with different methods.RESULTS The initial search produced 184 studies,with 15 fulfilling the eligibility criteria of our study.Selected articles(1987-2019)included 111 patients overall(136 femurs).CONCLUSION Based on our results,the preferred method to stabilize corrective osteotomies is intramedullary nailing with neck cross pinning.When the deformity is limited to the proximal part of the femur,a screw or blade plate may be used,although there is a high risk of fracture below the plate.When the femur is entirely involved,a two-stage procedure may be considered.

Discontinuous polyostotic fibrous dysplasia with multiple systemic disorders and unique genetic mutations:A case report

BACKGROUND Polyostotic fibrous dysplasia(PFD)is an uncommon developmental bone disease in which normal bone and marrow are replaced by pseudotumoral tissue.The etiology of PFD is unclear,but it is generally thought to be caused by sporadic,post-zygotic mutations in the GNAS gene.Herein,we report the case of a young female with bone pain and lesions consistent with PFD,unique physical findings,and gene mutations.CASE SUMMARY A 27-year-old female presented with unbearable bone pain in her left foot for 4 years.Multiple bone lesions were detected by radiographic examinations,and a diagnosis of PFD was made after a biopsy of her left calcaneus with symptoms including pre-axial polydactyly on her left hand and severe ophthalmological problems such as high myopia,vitreous opacity,and choroidal atrophy.Her serum cortisol level was high,consistent with Cushing syndrome.Due to consanguineous marriage of her grandparents,boosted whole exome screening was performed to identify gene mutations.The results revealed mutations in HSPG2 and RIMS1,which may be contributing factors to her unique findings.CONCLUSION The unique findings in this patient with PFD may be related to mutations in the HSPG2 and RIMS1 genes.

Long term treatment of recurring pathological fractures due to Mccune Albright Syndrome: Case report and literature review

McCune Albright syndrome is a rare genetic disorder which is characterized by café au lait skin pigmentation, precocious puberty and polyostotic fibrous dysplasia. Treating recurring pathological fractures due to Albright syndrome is a very challenging endeavor, and more so when it is accompanied by poor bone quality and deformity. We hereby present the case of a 23-year-old male patient who is treated several times for recurrent pathological fractures of the femur at our center. We analyze the difficulties associated with treating a patient with poor bone quality over several years, discuss our treatment options, review the literature for similar cases and look at what we could have done differently. We weigh in on the difficulties in treating a severely deformed shepherd’s crook, the ways of achieving proper internal fixation and the dangers of using plating instead of an IM nail as suggested in the literature. Our main goal in reporting this case is to bring forth the unusual challenges encountered when treating patients with Albright syndrome and discussing the options of the orthopedic surgeons when treating these types of patients.