FD & MAS - SKELETAL STUDIES
Fibrous Dyspalsia of the Proximal Part of the Femur – Long Term Results of Curettage and Bone-Grafting and Mechanical Realignment, The Journal of Bone and Joint Surgery Vol. 80-A. No. 5, May 1998, James T. Guille, M.D., S. Jay Kumar, M.D., G. Dean MacEwen, M.D.
This study involved 22 patients with FD of the proximal part of the femur. Those with MFD had fewer microfractures, less deformity, and stronger bone. Those with PFD had more microfractures, more deformity, including shepherd’s crook, and often bone that could not support internal fixation. Curettage and cancellous or cortial bone-grafting did not appear to have any advantage as all bone grafts were resorbed with FD. Deformity of the proximal femur is best treated with osteotomy and internal fixation early in the course of the disease according to this study.
Fibrous Dysplasia of the Femoral Neck – Treatment by Cortical Bone-Grafting, The Journal of Bone and Joint Surgery. Vol. 68-A. No. 9, December 1986, William F. Enneking, M.D., Peter F. Gearen, M.D.
This study looked at the use of graft with cortical bone in 15 patients with fibrous dysplasia of the femoral neck. They noted that grafts using cacellous bone and curettage (scrapping) were unsatisfactory in most patients with the graft being overtaken by dysplastic (FD) bone. In this study they reasoned that autogenous (from yourself) cortical (out part of the bone) bone from non-FD fibula would be less likely to be taken over by the FD bone. The goal was to repair fatigue fractures, prevent deformity and additional fractures without aggressive surgery. They restricted use of this method to patients who had normal bone in femoral head and in distal end of femur. The objective of pain relief, union of fracture and prevention of deformity was achieved in all 15 patients.
Fracture Incidence in Polyostotic Fibrous Dysplasia and McCune Albright Syndrome, Journal of Bone and Mineral Research, Vol. 19, Number 4, 2004, Arabella Leet, Caroline Chebli, Harvey Kushner, Clara C. Chen, Marilyn H. Kelly, Beth A. Brillante, Pamela G. Robey, Paolo Bianco, Shlomo Weintraub, Michael T. Collins.
This study examined the fracture history of 35 patients at the National Institutes of Health with FD/MAS. The peak incidence of fractures occurred in the first decade of life (six to ten years old), followed by a decrease thereafter. Phosphaturia was associated with an earlier incidence and increased frequency of fractures.
The Correlation of Specific Orothopaedic Features of PFD with Functional Outcome in Scores in Child, Journal of Bone and Joint Surgery, 88: 818-823, 2006, Arabella Leet, et. al.
This article is concerned with the evaluation of patient function in a sample of 20 children up to age 16 participating in an NIH sponsored long term study of polyostotic FD. This investigation explored the extent of patient’s skeletal deformities as well as patient’s physical activity and happiness. Researchers examined radiographs, patients’ medical charts and parents and children completed questionnaires. Important findings include: (1) The disease has its major burden in the lower extremities which affects the functional activity of children. (2) Femoral neck shaft angle correlates strongly with involvement in sports. (3) There is an unusual correlation between happiness, pain and sports, perhaps indicating that physical activity may increase well being despite causing micro-fractures.
Intramedullary Rodding and Bisphosphonate Treatment of Polyostotic Fibrous Dysplasia Associated with the McCune-Albright Syndrome, Journal of Pediatric Orthopaedics, 22:255-260 © 2002 , Mark O’Sullivan. M.B.B.S., F.R.A.C.S. and Margaret Zacharin, M.B.B.S., F.R.A.C.S.
Report from a study conducted in Australia of five children with MAS. They were treated with a combination of bisphosponates and implantation of intramedullary rods in the femur or tibia. This treatment was successful in all patients, as indicated by improvement in quality of life, a decreased in pain, an improvement in the fracture rate, and improved walking ability.
Fibrous Dysplasia – An Analysis of Options for Treatment. Journal of Bone and Joint Surgery, Vol. 69-A, No. 3, March 1987, Robert B. Stephenson, M.D., Michael D. London, M.D., Fred M. Hankin, M.D., and Herbert Kaufer.
In this study of 43 patients with FD, patients with upper extremity FD had satisfactory results with non-operative treatment. Age was a factor in patients with FD in lower extremities. For those over 18 satisfactory results were achieved in 8 of 9 cases with curettage and bone grafting. Those under 18 with lower extremity disease had unsatisfactory results with curettage and bone grafting. Those under 18 treated with internal fixation had satisfactory results.
Normal Vision Despite Narrowing Of The Optic Canal In Fibrous Dysplasia, The New England Journal of Medicine, November 21, 2002, Janice S. Lee, D,D.S., M,D., Edmond FitzGibbon, M.D., John A. Butman, M,D., Ph.D., Craig R. Dufresne, M.D., Harvey Kushner, Ph.D., Shlomo Wientraub, M.D., Pamela G. Robey, Ph.D., and Michael T. Collins, M.D.
Fibrous dysplasia of bone frequently involves the anterior base of the cranium and results in encasement of the optic-nerve canals. It has been assumed that such encasement leads to constriction and eventual blindness. This was a study of 38 patients with fibrous dysplasia of the lesser wing of the sphenoid bone. The patients underwent a detailed neuro-ophthalmologic examination and computed tomography of the face and skull. The results were compared with those of 38 age and sex-matched controls. Encasement of the optic canal in fibrous dysplasia causes narrowing of the canal, but that in itself does not result in visual loss. Therefore, prophylactic decompression of the optic nerve does not appear to be indicated on the basis of the presence of fibrous dysplasia on diagnostic images alone, since it does not correlate with visual loss.
Fibrous Dysplasia in the Spine Journal of Bone and Joint Surgery 86 (3): 531-537, 2004, Leet, Arabella; Magur, Edward; Lee, Janice S.; Wientroub, Shlomo; Robey, Pamela G. and Collins, Michael T.
Twenty-three men and 39 women in an NIH natural history study were examined using bone scans and radiography. Bone scans established the presence of spinal lesions in 63% of the sample. This was much higher than was generally believed likely. Bone scans also reliably established the presence of scoliosis; however, radiography resulted in a more accurate measure of the degree of curvature. Phosphaturia and hyperparathyroidism were associated with scoliosis; location of café-au-lait spots or precocious puberty were not. Authors recommend that patients with PFD be surveyed for spinal involvement using bone scans and if scoliosis is detected, then radiography be sued to refine the diagnosis.
Osteoclastogenesis in Fibrous Dysplasia of Bone: In Situ and In Vitro analysis of IL-6 expression, Bone 33: 434-442, 2003, Riminucci, M.; Kuznetsov, S. A.; Cherman, N.; Corsi, A.; Bianco, P. and Robey, P. G.
This study investigated IL-6 expression in FD pathology samples and its relationship to the actual patterns of osteoclastogenesis (the creation of cells that break down bone) within the abnormal tissue. The authors found that unlike normal bone, osteoclastogenesis is not spatially restricted to bone surfaces in FD, but occurs to a large extent ectopically in the fibrous tissue. The authors also observed that an autocrine/ paracrine loop may contribute to osteoclastogenesis in vivo in FD, as in some other diseases, including Paget’s disease. Using “wild type” and mutated stromal cells taken from FD lesions, the authors established a direct link between GNAS1 mutations in stromal cells and IL-6 production. However, they also discovered that the local and systematic context – non-osteogenic cells, proportions of “wild type” and mutated cells, and systemic hormones – contribute to patterns of osteoclastogenesis and bone resorption.
Fibrous Dysplasia of Bone in the McCune-Albright Syndrome. American Jounral of Pathology 151 (6): 1587-1600, 1997, Riminucci, Mara; Fisher, Larry W.; Shenker, Andrew; Spiegel, Allen M.; Bianco, Palo and Robey, Pamela Gehrom.
This study shows (1) that GSa gene expression and its mRNA is critically up-regulated during maturation of precurser osteogenic cells to normal osteoblast cells (cells that build-up bone) and (2) that this pattern of expression is maintained in Fibrous Dysplasia. The authors argue that the convention view that FD is a disease of cells in the osteogenic lineage related to affects of excess cAMP on bone function is wrong. The authors discovered that the fibrous component of the dysplastic lesion is composed of cells with features of early pre-osteoblastic, rather than fibroblastic cells. Cells populating the fibrotic areas of FD express alkeline phosphatase activity, which indicates their relationship to osteogenic lineage and their divergence from nonosteogenic fibroblasts.