McCune-Albright syndrome

McCune DJ: Osteitis fibrosa cystica: the case of a nine-year-old girl who also exhibits precocious puberty, multiple pigmentation of the skin and hyperthyroidism. Am J Dis Child. 1936, 52: 743-744.

Albright F, Butler AM, Hampton AO, Smith P: Syndrome characterized by osteitis fibrosa disseminata, areas, of pigmentation, and endocrine dysfunction, with precocious puberty in females: report of 5 cases. N Engl J Med. 1937, 216: 727-746.

Mastorakos G, Mitsiades NS, Doufas AG, Koutras DA: Hyperthyroidism in McCune-Albright syndrome with a review of thyroid abnormalities sixty years after the first report. Thyroid. 1997, 7: 433-439.

Sherman SI, Ladenson PW: Octreotide therapy of growth hormone excess in the McCune-Albright syndrome. Journal of endocrinological investigation. 1992, 15: 185-190.

Akintoye SO, Chebli C, Booher S, Feuillan P, Kushner H, Leroith D, Cherman N, Bianco P, Wientroub S, Robey PG, Collins MT: Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab. 2002, 87 (11): 5104-5112. 10.1210/jc.2001-012022.

Collins MT, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, Wientroub S, Bianco P, Robey PG: Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia. J Bone Miner Res. 2001, 16: 806-813. 10.1359/jbmr.2001.16.5.806.

Danon M, Crawford JD: The McCune-Albright syndrome. Ergeb Inn Med Kinderheilkd. 1987, 55: 81-115.

Diaz A, Danon M, Crawford J: McCune-Albright syndrome and disorders due to activating mutations of GNAS1. J Pediatr Endocrinol Metab. 2007, 20: 853-880.

Kirk JM, Brain CE, Carson DJ, Hyde JC, Grant DB: Cushing's syndrome caused by nodular adrenal hyperplasia in children with McCune-Albright syndrome. The Journal of pediatrics. 1999, 134: 789-792. 10.1016/S0022-3476(99)70302-1.

Shenker A, Weinstein LS, Moran A, Pescovitz OH, Charest NJ, Boney CM, Van Wyk JJ, Merino MJ, Feuillan PP, Spiegel AM: Severe endocrine and nonendocrine manifestations of the McCune-Albright syndrome associated with activating mutations of stimulatory G protein GS. J Pediatr. 1993, 123: 509-518. 10.1016/S0022-3476(05)80943-6.

Lichtenstein LJH: Fibrous dysplasia of bone: a condition affecting one, several or many bones, graver cases of which may present abnormal pigmentation of skin, premature sexual development, hyperthyroidism or still other extraskeletal abnormalities. Arch Path. 1942, 33: 777-816.

Bianco P, Robey PG, Wientroub S: Fibrous dysplasia. Pediatric Bone: Biology and Disease. Edited by: Glorieux FH, Pettifor J, Juppner H. 2003, New York, NY: Academic Press, Elsevier, 509-539.

Collins MT: Spectrum and natural history of fibrous dysplasia of bone. J Bone Miner Res. 2006, 21 (Suppl 2): P99-P104. 10.1359/jbmr.06s219.

Collins MT, Bianco P: Fibrous dysplasia. Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism. Edited by: Favus MJ. 2006, Washington, D.C.: American Society for Bone and Mineral Research, 415-418. 6

Collins MT, Shenker A: McCune-Albright syndrome: new insights. Curr Opin in Endocrinol and Diabetes. 1999, 6: 119-125. 10.1097/00060793-199904000-00006.

Dorfman HD, Czerniak B: Fibroosseous Lesions. Bone Tumors. Edited by: Dorfman HD, Czerniak B. 1998, St. Louis, MO: Mosby, 441-491.

Hart ES, Kelly MH, Brillante B, Chen CC, Ziran N, Lee JS, Feuillan P, Leet AI, Kushner H, Robey PG, Collins MT: Onset, progression, and plateau of skeletal lesions in fibrous dysplasia and the relationship to functional outcome. J Bone Miner Res. 2007, 22: 1468-1474. 10.1359/jbmr.070511.

Leet AI, Chebli C, Kushner H, Chen CC, Kelly MH, Brillante BA, Robey PG, Bianco P, Wientroub S, Collins MT: Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res. 2004, 19: 571-577. 10.1359/JBMR.0301262.

Ruggieri P, Sim FH, Bond JR, Unni KK: Malignancies in fibrous dysplasia. Cancer. 1994, 73: 1411-1424. 10.1002/1097-0142(19940301)73:5<1411::AID-CNCR2820730516>3.0.CO;2-T.

Blanco P, Schaeverbeke T, Baillet L, Lequen L, Bannwarth B, Dehais J: Chondrosarcoma in a patient with McCune-Albright syndrome. Report of a case. Rev Rhum Engl Ed. 1999, 66: 177-179.

Lopez-Ben R, Pitt MJ, Jaffe KA, Siegal GP: Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome. Skeletal Radiol. 1999, 28: 522-526. 10.1007/s002560050556.

Scanlon EF, Burkett FE, Sener SF, Green OC, Traisman HS, Marr TJ, Victor TA, Crist ML: Breast carcinoma in a 11-year-old girl with Albright's syndrome. Breast. 1980, 6:

Tanabeu Y, Nakahara S, Mitsuyama S, Ono M, Toyoshima S: Breast Cancer in a Patient with McCune-Albright Syndrome. Breast Cancer. 1998, 5: 175-178.

Collins MT, Sarlis NJ, Merino MJ, Monroe J, Crawford SE, Krakoff JA, Guthrie LC, Bonat S, Robey PG, Shenker A: Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab. 2003, 88: 4413-4417. 10.1210/jc.2002-021642.

Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM: Activating mutations of the stimulatory G protein in the McCune – Albright syndrome [see comments]. N Engl J Med. 1991, 325: 1688-1695.

Schwindinger WF, Francomano CA, Levine MA: Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome. Proc Natl Acad Sci USA. 1992, 89: 5152-5156. 10.1073/pnas.89.11.5152.

Bianco P, Riminucci M, Majolagbe A, Kuznetsov SA, Collins MT, Mankani MH, Corsi A, Bone HG, Wientroub S, Spiegel AM, Fisher LW, Robey PG: Mutations of the GNAS1 gene, stromal cell dysfunction, and osteomalacic changes in non-McCune-Albright fibrous dysplasia of bone. J Bone Miner Res. 2000, 15: 120-128. 10.1359/jbmr.2000.15.1.120.

Idowu BD, Al-Adnani M, O'Donnell P, Yu L, Odell E, Diss T, Gale RE, Flanagan AM: A sensitive mutation-specific screening technique for GNAS1 mutations in cases of fibrous dysplasia: the first report of a codon 227 mutation in bone. Histopathology. 2007, 50: 691-704. 10.1111/j.1365-2559.2007.02676.x.

Riminucci M, Saggio I, Robey PG, Bianco P: Fibrous dysplasia as a stem cell disease. J Bone Miner Res. 2006, 21 (Suppl 2): P125-131. 10.1359/jbmr.06s224.

Collins MT, Kushner H, Reynolds JC, Chebli C, Kelly MH, Gupta A, Brillante B, Leet AI, Riminucci M, Robey PG, Bianco P, Wientroub S, Chen CC: An instrument to measure skeletal burden and predict functional outcome in fibrous dysplasia of bone. J Bone Miner Res. 2005, 20: 219-226. 10.1359/JBMR.041111.

Ippolito E, Bray EW, Corsi A, De Maio F, Exner UG, Robey PG, Grill F, Lala R, Massobrio M, Pinggera O, Riminucci M, Snela S, Zambakidis C, Bianco P: Natural history and treatment of fibrous dysplasia of bone: a multicenter clinicopathologic study promoted by the European Pediatric Orthopaedic Society. Journal of pediatric orthopaedics. 2003, 12: 155-177. 10.1097/00009957-200305000-00001.

Kelly MH, Brillante B, Collins MT: Pain in fibrous dysplasia of bone: age-related changes and the anatomical distribution of skeletal lesions. Osteoporos Int. 2007

Riminucci M, Liu B, Corsi A, Shenker A, Spiegel AM, Robey PG, Bianco P: The histopathology of fibrous dysplasia of bone in patients with activating mutations of the Gs alpha gene: site-specific patterns and recurrent histological hallmarks. The Journal of pathology. 1999, 187: 249-258. 10.1002/(SICI)1096-9896(199901)187:2<249::AID-PATH222>3.0.CO;2-J.

Corsi A, Collins MT, Riminucci M, Howell PG, Boyde A, Robey PG, Bianco P: Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations. J Bone Miner Res. 2003, 18: 1235-1246. 10.1359/jbmr.2003.18.7.1235.

Hannon TS, Noonan K, Steinmetz R, Eugster EA, Levine MA, Pescovitz OH: Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?. J Pediatr. 2003, 142: 532-538. 10.1067/mpd.2003.153.

Center for Genetic Testing. [ http://www.sfh-lab.com ]

Genome Diagnostics. [ http://www.umcutrecht.nl/subsite/genome-diagnostics/DNA-diagnostics/Gene-Tests.htm ]

Byard RW: Forensic considerations in cases of neurofibromatosis – an overview. Journal of forensic sciences. 2007, 52: 1164-1170. 10.1111/j.1556-4029.2007.00512.x.

Theos A, Korf BR: Pathophysiology of neurofibromatosis type 1. Annals of internal medicine. 2006, 144: 842-849.

Lee JS, FitzGibbon E, Butman JA, Dufresne CR, Kushner H, Wientroub S, Robey PG, Collins MT: Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med. 2002, 347: 1670-1676. 10.1056/NEJMoa020742.

Cutler CM, Lee JS, Butman JA, FitzGibbon EJ, Kelly MH, Brillante BA, Feuillan P, Robey PG, DuFresne CR, Collins MT: Long-term outcome of optic nerve encasement and optic nerve decompression in patients with fibrous dysplasia: risk factors for blindness and safety of observation. Neurosurgery. 2006, 59: 1011-1017. discussion 1017–1018

Feuillan PP, Shawker T, Rose SR, Jones J, Jeevanram RK, Nisula BC: Thyroid abnormalities in the McCune-Albright syndrome: ultrasonography and hormone studies. J Clin Endocrinol Metab. 1990, 71: 1596-1601.

Riminucci M, Collins MT, Fedarko NS, Cherman N, Corsi A, White KE, Waguespack S, Gupta A, Hannon T, Econs MJ, Bianco P, Gehron Robey P: FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. 2003, 112: 683-692.

Terpstra L, Rauch F, Plotkin H, Travers R, Glorieux FH: Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysis. J Bone Miner Res. 2002, 17: 1949-1953. 10.1359/jbmr.2002.17.11.1949.

Glorieux FH, Rauch F: Medical therapy of children with fibrous dysplasia. J Bone Miner Res. 2006, 21 (Suppl 2): P110-113. 10.1359/jbmr.06s221.

Hammami MM, Hussain SS, Vencer LJ, Butt A, al-Zahrani A: Primary hyperparathyroidism-associated polyostotic fibrous dysplasia: absence of McCune-Albright syndrome mutations. J Endocrinol Invest. 1997, 20: 552-558.

Barone A, Giusti A, Pioli G, Girasole G, Razzano M, Pizzonia M, Palummeri E, Bianchi G: Secondary hyperparathyroidism due to hypovitaminosis D affects bone mineral density response to alendronate in elderly women with osteoporosis: a randomized controlled trial. Journal of the American Geriatrics Society. 2007, 55: 752-757. 10.1111/j.1532-5415.2007.01161.x.

Giusti A, Barone A, Razzano M, Pizzonia M, Oliveri M, Palummeri E, Pioli G: High prevalence of secondary hyperparathyroidism due to hypovitaminosis D in hospitalized elderly with and without hip fracture. Journal of endocrinological investigation. 2006, 29: 809-813.

Reginster JY: The high prevalence of inadequate serum vitamin D levels and implications for bone health. Current medical research and opinion. 2005, 21: 579-586. 10.1185/030079905X41435.

Hashemipour S, Larijani B, Adibi H, Sedaghat M, Pajouhi M, Bastan-Hagh MH, Soltani A, Javadi E, Shafaei AR, Baradar-Jalili R, Hossein-Nezhad A: The status of biochemical parameters in varying degrees of vitamin D deficiency. Journal of bone and mineral metabolism. 2006, 24: 213-218. 10.1007/s00774-005-0674-8.

Stanton RP: Surgery for fibrous dysplasia. J Bone Miner Res. 2006, 21 (Suppl 2): P105-109. 10.1359/jbmr.06s220.

Chapurlat RD: Medical therapy in adults with fibrous dysplasia of bone. J Bone Miner Res. 2006, 21 (Suppl 2): P114-119. 10.1359/jbmr.06s222.

Liens D, Delmas PD, Meunier PJ: Long-term effects of intravenous pamidronate in fibrous dysplasia of bone. Lancet. 1994, 343: 953-954. 10.1016/S0140-6736(94)90069-8.

Plotkin H, Rauch F, Zeitlin L, Munns C, Travers R, Glorieux FH: Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab. 2003, 88: 4569-4575. 10.1210/jc.2003-030050.

Chan B, Zacharin M: Pamidronate treatment of polyostotic fibrous dysplasia: failure to prevent expansion of dysplastic lesions during childhood. J Pediatr Endocrinol Metab. 2006, 19: 75-80.

Leet AI, Magur E, Lee JS, Wientroub S, Robey PG, Collins MT: Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosis. J Bone Joint Surg Am. 2004, 86-A (3): 531-537.

Feuillan P, Calis K, Hill S, Shawker T, Robey PG, Collins MT: Letrozole Treatment of Precocious Puberty in Girls with the McCune-Albright Syndrome: A Pilot Study. J Clin Endocrinol Metab. 2007, 92: 2100-2106. 10.1210/jc.2006-2350.

Feuillan PP: Treatment of sexual precocity in girls with the McCune-Albright syndrome. Sexual precocity: etiology, diagnosis and management. Edited by: Grave GD, Cutler GB. 1993, New York: Raven Press, 243-251.

Eugster EA, Rubin SD, Reiter EO, Plourde P, Jou HC, Pescovitz OH: Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. The Journal of pediatrics. 2003, 143: 60-66. 10.1016/S0022-3476(03)00128-8.

Congedo V, Celi FS: Thyroid disease in patients with McCune-Albright syndrome. Pediatr Endocrinol Rev. 2007, 4 (Suppl 4): 429-433.

Akintoye SO, Kelly MH, Brillante B, Cherman N, Turner S, Butman JA, Robey PG, Collins MT: Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome. J Clin Endocrinol Metab. 2006, 91: 2960-2966. 10.1210/jc.2005-2661.

Chanson P, Salenave S, Orcel P: McCune-Albright syndrome in adulthood. Pediatr Endocrinol Rev. 2007, 4 (Suppl 4): 453-462.

Galland F, Kamenicky P, Affres H, Reznik Y, Pontvert D, Le Bouc Y, Young J, Chanson P: McCune-Albright syndrome and acromegaly: effects of hypothalamopituitary radiotherapy and/or pegvisomant in somatostatin analog-resistant patients. J Clin Endocrinol Metab. 2006, 91: 4957-4961. 10.1210/jc.2006-0561.

Ehrig U, Wilson DR: Fibrous dysplasia of bone and primary hyperparathyroidism. Ann Intern Med. 1972, 77: 234-238.

Leslie WD, Reinhold C, Rosenthall L, Tau C, Glorieux FH: Panostotic fibrous dysplasia. A new craniotubular dysplasia. Clinical nuclear medicine. 1992, 17: 556-560. 10.1097/00003072-199207000-00005.

Feuillan PP: McCune-Albright syndrome. Curr Ther Endocrinol Metab. 1997, 6: 235-239.

Defilippi C, Chiappetta D, Marzari D, Mussa A, Lala R: Image diagnosis in McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2006, 19 (Suppl 2): 561-570.

Silva ES, Lumbroso S, Medina M, Gillerot Y, Sultan C, Sokal EM: Demonstration of McCune-Albright mutations in the liver of children with high gammaGT progressive cholestasis. Journal of hepatology. 2000, 32: 154-158. 10.1016/S0168-8278(00)80202-0.

Zimmerman D: Fetal and neonatal hyperthyroidism. Thyroid. 1999, 9: 727-733.

Schwartz RA, Spicer MS, Leevy CB, Ticker JB, Lambert WC: Cutaneous fibrous dysplasia: an incomplete form of the McCune-Albright syndrome. Dermatology (Basel, Switzerland). 1996, 192: 258-261.

Pierini AM, Ortonne JP, Floret D: [Cutaneous manifestations of McCune-Albright syndrome: report of a case (author's transl)]. Annales de dermatologie et de venereologie. 1981, 108: 969-976.