McCune Albright Syndrome, Orphanet Encyclopedia, August 2004, Michal T. Collins
A comprehensive article about MAS including diagnosis, cause, clinical description, malignancies, skeletal descriptions, endochrine issues, genetic issues, skeletal treatment, and drugs (bisphosphonates). Excellent illustrations.
Chapter 76 Fibrous Dysplasia, American Society of Bone and Mineral Research, 2003, Michael T. Collins and Paolo Bianco
A chapter in a publication. The chapter covers cause and course of FD/MAS, clinical features, and management and treatment. It contains some excellent illustrations.
Natural History and Treatment of Fibrous Dysplasia of Bone: a Multicenter Clinicopaethologic Study Promoted by the European Pediatric Orthopaedic Society, Journal of Pediatric Orthopaedics Volume 12(3) May 2003 pp. 155-177 Ippolito, Ernesto, Bray, Edward W., Corsi, Alessandro; DeMaio, Fernando; Exner, Ulrich; Robey, Pamela Gehron; Grill, Franz; Lala, Roberto; Massobrio, Marco; Pinggera, Oswald; Riminucci, Mara; Snela. Slawomir; Zambakidis, Christos; Bianco, Paolo.
This European study used date from 64 patients with FD, PFD and MAS at 11 participating centers. This extensive (27 pages) article includes many pictures of x-rays. The five main points noted in the abstract were: 1) there are significant diagnostic pitfalls with monostotic FD and to a lesser extent with PFD. There is a need for stringent diagnostic criteria., 2) MFD in the proximal femur carries significant risk of fracture, but tendency to progress is restricted., 3) The profile of FD in tibia is markedly different than FD in femur., 4) MAS patients have the most extensive disease and require surgical treatment. For femur fractures treatment with internal fixation using intramedullary nails provide stabilization and prevents future fractures and deformity. Conservative treatment of femoral fractures or curettage and cancellous bone grafting , or fixation with side screws and plates are not indicated and should be discouraged., 5) Evaluation of patients with FD should include a through evaluation of endochrine profile and phosphate metabolism, and proper pathological and radiographic (i.e. x-ray, bone scan, bone density) assessment.
Fibrous Dysplasia Pathophysiology, Evaluation, and Treatment. Journal of Bone and Joint Surgery, 87: 1848-1864, 2005, Matthew DiCaprio & William Enneking.
This very accessibly written article reviews the literature concerning the evaluation, detection and treatment options for people suffering with Fibrous Dysplasia. The authors explain the genetic basis of the disease, the nature of typical FD lesions, and necessary tests to achieve a proper diagnosis. The authors describe the application of biophosphonates to reduce pain, lower the risk of fractures and increase function and discuss current surgical practices to reinforce weak and damaged bone. The article contains numerous radiographic images and histological slides to illustrate the conceptual discussion. It should be required reading for newly diagnosed patients, their caregivers and their primary physicians.
Long Term Outcome and Decompression in FD. Neurosurgery, 59: 1011-1018, 2006, Carolee Cutler, et. al.
This article examined patients from the National Institute of Health with craniofacial FD (n=91) to study the impact of FD encasement on the optic nerve. Researchers concluded that there is minimal link between craniofacial FD and blindness. Investigators also found individuals with craniofacial FD tend to have an increased amount of Growth Hormone (GH). Researchers recommend that all patients diagnosed with craniofacial FD have their GH levels tested, because appropriate treatments are available.
McCune-Albright Syndrome Long Term Follow-Up, JAMA Vol. 256 No. 21, 1986, Peter A. Lee, M.D., Ph.D., Cornelis Van Dop, PhD., M.D., Claude J. Migeon, M.D.
This article describes clinical follow-up of 15 patients (13 female – 2 male) with MAS. Fractures occurred only during childhood. Hearing impairment due to temporal bone involvement occurred in four of six cases. Four females with precocious puberty had normal range final heights; they developed regular menes, and two had children. Persistent hyperthyroidism occurred in three cases.
Fibrous Dysplasia of Bone – A Review of 25 Cases, Archives of Pathology, Vol. 75, May 1963, Richard J. Reed, M.D.
A study of the pathology of 25 cases of FD utilizing microscopic slides of sample tissue. This study delineates some of the cellular abnormalities present in FD and details some of the criteria for the pathological diagnosis of FD.
Physical Function Impaired but Quality of Life Preserved in Patients with Fibrous Dysplasia of Bone. Bone vol: pages, 2005, Kelly, Marilyn H.; Brillante, Beth; Kushner, Harvey; Robey, Pamela Gehron and Collins, Michael.
Fifty-six adults and 22 children with FD enrolled in an NIH natural history study were assessed for their disease burden and perceived quality of life. The amount of bone affected by FD correlated strongly with physical impairment. Physical function for both adults and children with FD was comparable to other chronic diseases – rheumatoid arthritis and asthma, respectively. Mental health and social function scores for affected adults and children were comparable to the general US adult and child populations. However, parents with children with FD experienced greater worry than the general population.
A Highly Sensitive Polymerase Chain Reaction Method Detects Activating Mutations of the GNAS Gene in Peripheral Blood Cells in McCune-Albright Syndrome or Isolated Fibrous Dysplasia. The Journal of Bone and Joint Surgery, 87:2489-2494, 2005, Lietman, Steven A.; Ding, Changlin; and Levine, Michael A.
Genetic and Molecular Aspects of McCune-Albright Syndrome. Pediatric Endocrinology Reviews, 4 (4): 2007, Lietman, Steven A.; Schwindinger, William F.; Levine, Michael A.