polyostotic fibrous dysplasia

Summary

Summary: FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.

Top Publications

  1. Plotkin H, Rauch F, Zeitlin L, Munns C, Travers R, Glorieux F. Effect of pamidronate treatment in children with polyostotic fibrous dysplasia of bone. J Clin Endocrinol Metab. 2003;88:4569-75 pubmed
    ..In conclusion, pamidronate therapy appears to be safe in children and adolescents with polyostotic FD. However, we found no clear evidence that pamidronate has an effect on dysplastic lesions in such patients...
  2. Leet A, Magur E, Lee J, Wientroub S, Robey P, Collins M. Fibrous dysplasia in the spine: prevalence of lesions and association with scoliosis. J Bone Joint Surg Am. 2004;86-A:531-7 pubmed
    ..dysplasia involving the spine and scoliosis are thought to be uncommon entities in patients with polyostotic fibrous dysplasia and McCune-Albright syndrome...
  3. Tezer M, Erturer E, Ozturk C, Aydogan M, Hamzaoglu A. Symptomatic polyostotic fibrous dysplasia of the thoracic spine. Joint Bone Spine. 2006;73:742-4 pubmed
    We present a case of polyostotic fibrous dysplasia with limited involvement in thoracic spine and adjacent ribs...
  4. Lee J, FitzGibbon E, Butman J, Dufresne C, Kushner H, Wientroub S, et al. Normal vision despite narrowing of the optic canal in fibrous dysplasia. N Engl J Med. 2002;347:1670-6 pubmed
    ..This question is of particular concern in patients with normal vision, since the risks associated with surgical decompression include blindness...
  5. Dang D, Baig M, Christoforidis G, Chiocca E, Gabriel J. C2/C3 pathologic fractures from polyostotic fibrous dysplasia of the cervical spine treated with percutaneous vertebroplasty. Eur Spine J. 2007;16 Suppl 3:250-4 pubmed
    ..b>Polyostotic fibrous dysplasia involvement of the cervical spine is rare...
  6. Abdelkarim A, Green R, Startzell J, Preece J. Craniofacial polyostotic fibrous dysplasia: a case report and review of the literature. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2008;106:e49-55 pubmed publisher
    ..In this case, all FD lesions were radiopaque and presented with ground glass appearance. The relative importance of each imaging modality in the diagnosis and assessment of FD is discussed...
  7. Ould Slimane M, Foulongne E, Derrey S, Freger P, Proust F. [Polyostotic fibrous dysplasia of the thoracic spine. A case study and review of the literature]. Neurochirurgie. 2009;55:595-9 pubmed publisher
    b>Polyostotic fibrous dysplasia of the thoracic spine is extremely rare and considered a benign disease. We report the case of a 46-year-old woman admitted to the emergency department for subacute paraplegia...
  8. Hannon T, Noonan K, Steinmetz R, Eugster E, Levine M, Pescovitz O. Is McCune-Albright syndrome overlooked in subjects with fibrous dysplasia of bone?. J Pediatr. 2003;142:532-8 pubmed
    ..MAS) is characterized by a clinical triad of endocrinopathies, café au lait pigmentation, and polyostotic fibrous dysplasia of bone...
  9. Corsi A, Collins M, Riminucci M, Howell P, Boyde A, Robey P, et al. Osteomalacic and hyperparathyroid changes in fibrous dysplasia of bone: core biopsy studies and clinical correlations. J Bone Miner Res. 2003;18:1235-46 pubmed
    ..Compared with unaffected bone, lesional FD bone seemed to be very sensitive to the effects of PTH and renal phosphate wasting, which respectively bring about hyperparathyroid or osteomalacic changes in the lesional bone...

More Information

Publications89

  1. Schwindinger W, Francomano C, Levine M. 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 U S A. 1992;89:5152-6 pubmed
    McCune-Albright syndrome (MAS) is characterized by polyostotic fibrous dysplasia, café-au-lait lesions, and a variety of endocrine disorders, including precocious puberty, hyperthyroidism, hypercortisolism, growth hormone excess, and ..
  2. Akintoye S, Chebli C, Booher S, Feuillan P, Kushner H, LeRoith D, et al. Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab. 2002;87:5104-12 pubmed
    ..syndrome (MAS) is a disorder characterized by the triad of café-au-lait skin pigmentation, polyostotic fibrous dysplasia of bone, and hyperfunctioning endocrinopathies, including GH excess...
  3. Obuobie K, Mullik V, Jones C, John R, Rees A, Davies J, et al. McCune-Albright syndrome: growth hormone dynamics in pregnancy. J Clin Endocrinol Metab. 2001;86:2456-8 pubmed
  4. Viljoen D, Versfeld G, Losken W, Beighton P. Polyostotic fibrous dysplasia with cranial hyperostosis: new entity or most severe form of polyostotic fibrous dysplasia?. Am J Med Genet. 1988;29:661-7 pubmed
    ..It is questionable whether this condition is an autonomous entity or represents the end of the spectrum of severity of polyostotic fibrous dysplasia.
  5. Congedo V, Celi F. Thyroid disease in patients with McCune-Albright syndrome. Pediatr Endocrinol Rev. 2007;4 Suppl 4:429-33 pubmed
    ..Although thyroid cancer has been described in two cases of MAS, the prevalence of malignancy does not appear to be high. The therapeutic options in MAS involvement of the thyroid gland include thionamides, 131Iodine and surgery...
  6. Chattopadhyay A, Bhansali A, Mohanty S, Khandelwal N, Mathur S, Dash R. Hypophosphatemic rickets and osteomalacia in polyostotic fibrous dysplasia. J Pediatr Endocrinol Metab. 2003;16:893-6 pubmed
    A 17 year-old girl with polyostotic fibrous dysplasia and hypophosphatemia had inappropriately low tubular reabsorption of phosphate. She had radiological evidence of rickets and osteomalacia...
  7. Kao C, Sun S, Shen Y, Chen Y. Misdiagnosis of multiple bone metastases due to increased FDG uptake in polyostotic fibrous dysplasia. Clin Nucl Med. 2007;32:409-10 pubmed
  8. Galland F, Kamenicky P, Affres H, Reznik Y, Pontvert D, Le Bouc Y, et al. McCune-Albright syndrome and acromegaly: effects of hypothalamopituitary radiotherapy and/or pegvisomant in somatostatin analog-resistant patients. J Clin Endocrinol Metab. 2006;91:4957-61 pubmed
    ..Somatostatin analogs (SAs) generally give only partial responses. The use of radiotherapy (RT) is controversial because of a possible risk of bone sarcomatous transformation...
  9. Collins M, Chebli C, Jones J, Kushner H, Consugar M, Rinaldo P, et al. 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;16:806-13 pubmed
    ..These data show that phosphaturia as part of a generalized renal tubulopathy represents the most common extraskeletal manifestation of FD and that the observed tubulopathy is similar to that seen in tumor-induced osteomalacia (TIO)...
  10. Cabanillas M, Aneiros A, Monteagudo B, Santos Garcia D, Suárez Amor O, Ramírez Santos A. Epidermal nevus syndrome associated with polyostotic fibrous dysplasia, CNS lipoma, and aplasia cutis. Dermatol Online J. 2009;15:7 pubmed
    ..a patient with an extensive epidermal nevus associated with various organ abnormalities, particularly polyostotic fibrous dysplasia, central nervous system lipoma, and aplasia cutis...
  11. Leet A, Chebli C, Kushner H, Chen C, Kelly M, Brillante B, et al. Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res. 2004;19:571-7 pubmed
    In patients with polyostotic fibrous dysplasia of bone, the peak incidence of fractures is during the first decade of life, followed by a decrease thereafter...
  12. 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 pubmed
    ..To examine outcomes of pamidronate treatment on fibrous dysplasia of bone in three children with McCune-Albright syndrome (MAS)...
  13. Diaz A, Danon M, Crawford J. McCune-Albright syndrome and disorders due to activating mutations of GNAS1. J Pediatr Endocrinol Metab. 2007;20:853-80 pubmed
    ..We discuss here the clinical consequences of GNAS1 activating mutations in different body systems and organs, the diagnostic approach to MAS, and the current therapeutic recommendations...
  14. Eugster E, Rubin S, Reiter E, Plourde P, Jou H, Pescovitz O. Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial. J Pediatr. 2003;143:60-6 pubmed
    ..We undertook a 1-year multicenter trial of tamoxifen treatment for precocious puberty in girls with McCune-Albright syndrome (MAS)...
  15. Collins M, Sarlis N, Merino M, Monroe J, Crawford S, Krakoff J, et al. Thyroid carcinoma in the McCune-Albright syndrome: contributory role of activating Gs alpha mutations. J Clin Endocrinol Metab. 2003;88:4413-7 pubmed
    McCune-Albright syndrome (MAS) is defined by the triad of café-au-lait skin pigmentation, polyostotic fibrous dysplasia, and hyperfunctioning endocrinopathies, such as precocious puberty, hyperthyroidism, GH excess, and Cushing's ..
  16. Defilippi C, Chiappetta D, Marzari D, Mussa A, Lala R. Image diagnosis in McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2006;19 Suppl 2:561-70 pubmed
    McCune-Albright syndrome consists of polyostotic fibrous dysplasia, precocious puberty and cafè-au-lait skin lesions...
  17. Chanson P, Salenave S, Orcel P. McCune-Albright syndrome in adulthood. Pediatr Endocrinol Rev. 2007;4 Suppl 4:453-62 pubmed
    ..Recent data suggest that cancer incidence in adulthood (bone, breast, thyroid...) is increased in these patients...
  18. Levine M. Clinical implications of genetic defects in G proteins: oncogenic mutations in G alpha s as the molecular basis for the McCune-Albright syndrome. Arch Med Res. 1999;30:522-31 pubmed
  19. Kitagawa Y, Tamai K, Ito H. Oral alendronate treatment for polyostotic fibrous dysplasia: a case report. J Orthop Sci. 2004;9:521-5 pubmed
    ..We describe a patient with polyostotic fibrous dysplasia, who had complained of persistent pain for more than 20 years, that was treated with oral alendronate ..
  20. Akintoye S, Kelly M, Brillante B, Cherman N, Turner S, Butman J, et al. Pegvisomant for the treatment of gsp-mediated growth hormone excess in patients with McCune-Albright syndrome. J Clin Endocrinol Metab. 2006;91:2960-6 pubmed
    ..These same mutations are found in approximately one third of the sporadic cases of acromegaly...
  21. Weinstein L, Shenker A, Gejman P, Merino M, Friedman E, Spiegel A. Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991;325:1688-95 pubmed
    The McCune-Albright syndrome is a sporadic disease characterized by polyostotic fibrous dysplasia, café au lait spots, sexual precocity, and hyperfunction of multiple endocrine glands...
  22. Feuillan P, Calis K, Hill S, Shawker T, Robey P, Collins M. Letrozole treatment of precocious puberty in girls with the McCune-Albright syndrome: a pilot study. J Clin Endocrinol Metab. 2007;92:2100-6 pubmed
    ..Their puberty does not respond to GnRH agonist therapy, and short-acting aromatase inhibitors have had limited effectiveness...
  23. Terpstra L, Rauch F, Plotkin H, Travers R, Glorieux F. Bone mineralization in polyostotic fibrous dysplasia: histomorphometric analysis. J Bone Miner Res. 2002;17:1949-53 pubmed
    ..It is debatable whether the mild systemic mineralization defect warrants treatment with oral phosphorus supplementation if signs of rickets are absent...
  24. Bulakbasi N, Bozlar U, Karademir I, Kocaoglu M, Somuncu I. CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndrome. Diagn Interv Radiol. 2008;14:177-81 pubmed
    ..CT) and magnetic resonance imaging (MRI) in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia (PFD) in McCune-Albright syndrome (MAS) and related complications were reviewed...
  25. Christoforidis A, Maniadaki I, Stanhope R. McCune-Albright syndrome: growth hormone and prolactin hypersecretion. J Pediatr Endocrinol Metab. 2006;19 Suppl 2:623-5 pubmed
    ..The use of bromocriptine, cabergoline and octreotide, or the combination of these, has shown variable results, whereas pegvisomant, a GH receptor antagonist, is a new promising option, although not yet used in patients with MAS. ..
  26. Bajpai A, Greenway A, Zacharin M. Platelet dysfunction and increased bleeding tendency in McCune-Albright syndrome. J Pediatr. 2008;153:287-9 pubmed publisher
    ..We speculate that platelet dysfunction contributed to excessive blood loss in our patients. This report of platelet dysfunction in MAS highlights the need for assessment of platelet functions in the condition. ..
  27. Spiegel A. Focus on hereditary endocrine neoplasia. Cancer Cell. 2004;6:327-32 pubmed
  28. Aldred M. Genetics of pseudohypoparathyroidism types Ia and Ic. J Pediatr Endocrinol Metab. 2006;19 Suppl 2:635-40 pubmed
    ..Screening for whole exon deletions and intronic or regulatory mutations in mutation-negative families is therefore now an important priority to establish the full mutational spectrum in these conditions. ..
  29. DuVal M, Davidson S, Ho A, Cohen R, Park M, Nourian S, et al. Albright's hereditary osteodystrophy with extensive heterotopic ossification of the oral and maxillofacial region: how fetuin research may help a seemingly impossible condition. J Can Dent Assoc. 2007;73:845-50 pubmed
    ..In this article, we present such a case, describe the etiology, characteristics and treatment of AHO and suggest a potential role of an inhibitor of bone formation such as fetuin in preventing recurrence of aberrant ossification...
  30. Sreetharan S, Hazim M, Saim L. Rare bone disorder affecting the temporal bone. Med J Malaysia. 2006;61:103-5 pubmed
    ..Fibrous dysplasia is an uncommon benign disorder of unknown etiology. Rarely, it presents isolated in the temporal bone. We present three cases of monostotic fibrous dysplasia that involved the entire temporal bone. ..
  31. Brockmann H, Joe A, Palmedo H, Biersack H. A patient with acromegaly presenting with polyostotic fibrous dysplasia on bone scan: McCune-Albright syndrome. Clin Nucl Med. 2005;30:813-5 pubmed
  32. Sztuk S, Jaworek J, Bryll A, Nardzewska Szczepanik M, Urbanik A. [Fibrous dysplasia of the scull discovered accidently on CT from different indication]. Przegl Lek. 2010;67:289-94 pubmed
    ..Diagnosis of fibrous dysplasia is important because of unfavorable influence of the disease on stomatognathic system, laryngological disease, ophthalmic and neurological disease. ..
  33. Deen H, Fox T. Balloon kyphoplasty for vertebral compression fractures secondary to polyostotic fibrous dysplasia. Case report. J Neurosurg Spine. 2005;3:234-7 pubmed
    This 25-year-old woman with polyostotic fibrous dysplasia (McCune-Albright syndrome) suffered low-back pain after a minor traumatic injury. Neurological examination demonstrated normal status...
  34. Krysiak R, Marek B, Okopień B. [Peripheral precocious puberty]. Endokrynol Pol. 2009;60:503-14 pubmed
  35. Toth M, Toke J, Kiss E, Bernád I, Miheller P, Szucs N, et al. [Acromegaly associated with McCune-Albright syndrome]. Orv Hetil. 2002;143:1070-3 pubmed
    McCune-Albright syndrome is characterized by polyostotic fibrous dysplasia, cafe au lait pigmentation of the skin, and multiple endocrinopathies...
  36. Guille J, Bowen J. Scoliosis and fibrous dysplasia of the spine. Spine (Phila Pa 1976). 1995;20:248-51 pubmed
    This report is an account of three patients with scoliosis and polyostotic fibrous dysplasia involving the spine. The perioperative course of two patients who underwent posterior spinal arthrodesis is described...
  37. Bhansali A, Sharma B, Sreenivasulu P, Singh P, Vashisth R, Dash R. Acromegaly with fibrous dysplasia: McCune-Albright Syndrome -- clinical studies in 3 cases and brief review of literature--. Endocr J. 2003;50:793-9 pubmed
    ..All of them underwent transfrontal pituitary adenomectomy and had histopathological confirmation of GH secreting pituitary adenoma. A brief review of literature is also presented. ..
  38. Lala R, Matarazzo P, Andreo M, Defilippi C, de Sanctis C. Impact of endocrine hyperfunction and phosphate wasting on bone in McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2002;15 Suppl 3:913-20 pubmed
    ..Sonographic evidence of multiple diffused hyperechogenic spots in the testes of patients with MAS do not seem to be related to alterations in calcium-phosphate metabolism but rather to zonal dysplasia/hyperplasia of testicular tissue. ..
  39. Rodl R, Götze C. [Fibrous dysplasia]. Orthopade. 2008;37:49-55 pubmed
    ..The surgical approach with deformity correction and stabilization remains challenging particularly with regard to the proximal femur. Intramedullary devices should be preferred to plates, if possible. ..
  40. Palacios E, Rojas R, Ramirez G. Intracerebral abscess secondary to frontal mucocele with underlying fibrous dysplasia. Ear Nose Throat J. 2004;83:224-5 pubmed
  41. Sakaki S, Yokoyama S, Mamitsuka K, Nakayama M, Goto M, Kuratsu J. A case of pituitary adenoma associated with McCune-Albright syndrome. Pituitary. 1999;1:297-302 pubmed
    ..Postsurgical endocrinologic examination revealed reduction in basal serum GH and PRL levels. Administration of bromocriptine decreased blood PRL levels but it had a limited action on GH hypersecretion. ..
  42. Benbouazza K, Hassikou H, Guedira N, Abdelhafid E, Hajjaj Hassouni N. [Polyostotic fibrous dyplasia: a case report of a diffuse form with hemimelic predominance]. Rev Chir Orthop Reparatrice Appar Mot. 2002;88:620-4 pubmed
    ..We describe the clinical and radiological features observed in a patient with fibrous polyostotic fibrous dysplasia and discuss risks...
  43. Weinstein L. G(s)alpha mutations in fibrous dysplasia and McCune-Albright syndrome. J Bone Miner Res. 2006;21 Suppl 2:P120-4 pubmed
    ..Parental origin of the mutated allele may also affect the clinical presentation, because G(s)alpha is imprinted and expressed only from the maternal allele in some tissues (e.g., pituitary somatotrophs). ..
  44. Feuillan P, Jones J, Cutler G. Long-term testolactone therapy for precocious puberty in girls with the McCune-Albright syndrome. J Clin Endocrinol Metab. 1993;77:647-51 pubmed
    ..We conclude that testolactone can be effective in the treatment of LHRH-independent precocious puberty in girls with McCune-Albright syndrome, but that some patients exhibit an escape from the effects of treatment after 1-3 yr. ..
  45. Dou W, Lin N, Ma W, Yang Y, Zhu H, Sun J, et al. Transsphenoidal surgery in a patient with acromegaly and McCune-Albright syndrome: application of neuronavigation. J Neurosurg. 2008;108:164-9 pubmed publisher
    The McCune-Albright syndrome (MAS) is characterized by a clinical triad of polyostotic fibrous dysplasia, café-au-lait hyperpigmented macules, and hypersecretory endocrinopathies...
  46. Martig S, Lippold B, Oevermann A, Ueltschi G. Polyostotic bone lesions consistent with bone infarction in a horse. Vet Rec. 2008;162:352-3 pubmed
  47. Macdonald Jankowski D, Li T. Fibrous dysplasia in a Hong Kong community: the clinical and radiological features and outcomes of treatment. Dentomaxillofac Radiol. 2009;38:63-72 pubmed publisher
    ..To evaluate the principal clinical and radiological features of a consecutive series of cases of fibrous dysplasia (FD) affecting a Hong Kong Chinese community and to determine their outcome by follow-up...
  48. Maramattom B. Leontiasis ossea and post traumatic cervical cord contusion in polyostotic fibrous dysplasia. Head Face Med. 2006;2:24 pubmed
    Leontiasis ossea (leonine facies) or cervical canal stenosis are rare complications of polyostotic fibrous dysplasia (PFD)...
  49. Jhala D, Eltoum I, Carroll A, Lopez Ben R, Lopez Terrada D, Rao P, et al. Osteosarcoma in a patient with McCune-Albright syndrome and Mazabraud's syndrome: a case report emphasizing the cytological and cytogenetic findings. Hum Pathol. 2003;34:1354-7 pubmed
    ..We are unaware of any previous reports of the cytogenetic findings in the tissue of this rare condition, and argue for the value of FNA in the evaluation of such patients under selected conditions. ..
  50. Chassaing N, De Mas P, Tauber M, Vincent M, Julia S, Bourrouillou G, et al. Molecular characterization of a cryptic 2q37 deletion in a patient with Albright hereditary osteodystrophy-like phenotype. Am J Med Genet A. 2004;128A:410-3 pubmed
  51. Mieszczak J, Lowe E, Plourde P, Eugster E. The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. J Clin Endocrinol Metab. 2008;93:2751-4 pubmed publisher
    ..Pharmacological strategies other than anastrozole should be pursued for the treatment of PP in this population. ..
  52. Stratakis C, Cho Chung Y. Protein kinase A and human disease. Trends Endocrinol Metab. 2002;13:50-2 pubmed
  53. Rivkees S. McCune-Albright syndrome: 70 years of fascination and discovery. J Pediatr Endocrinol Metab. 2007;20:849-51 pubmed
  54. Fujii M, Kosuda S, Jitsu M, Maeda D, Kusano S, Sekine H. Long-term follow-up of a patient with McCune-Albright syndrome by whole-body bone scan and SPECT. Clin Nucl Med. 2004;29:712 pubmed
  55. Matiakin E, Mudunov A. [Variants of surgical interventions in cases of a craniofacial form of fibrous dysplasia]. Stomatologiia (Mosk). 2005;84:48-54 pubmed
    ..Variants of extended operative interventions in cases of craniofacial form of fibrous dysplasia are discussed as well as modern techniques of reconstruction of such defects of craniofacial zone...
  56. Klaassens M, Blom E, Schrander J, Ris Stalpers C, Nieuwenhuijzen Kruseman A, van Steensel M, et al. Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation. Br J Dermatol. 2010;162:690-4 pubmed publisher
    ..We speculate on the mechanism of dermal hypoplasia and resistance to PTH and suggest that subcutanous or dermal hypoplasia might be another feature which can be present in patients with AHO...
  57. Gesmundo R, Guanà R, Valfrè L, de Sanctis L, Matarazzo P, Marzari D, et al. Laparoscopic management of ovarian cysts in peripheral precocious puberty of McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2006;19 Suppl 2:571-5 pubmed
    ..It can be conducted with trans-umbilical laparoscopic ovarian cystectomy (TULOC) before 3 years of age and with traditional techniques afterwards...
  58. Peleg R, Luba A, Eliakim A, Israeli Shani L, Manor E, Birk R, et al. McCune-Albright syndrome in a discordant monozygotic twin. Isr Med Assoc J. 2009;11:343-7 pubmed
    ..McCune-Albright syndrome is a sporadic disorder characterized by polystotic fibrous dysplasia, pigmented patches of skin, and endocrinological abnormalities...
  59. Ohata Y, Yamamoto T, Mori I, Kikuchi T, Michigami T, Imanishi Y, et al. Severe arterial hypertension: a possible complication of McCune-Albright syndrome. Eur J Pediatr. 2009;168:871-6 pubmed publisher
    McCune-Albright syndrome is characterized by café-au-lait spot, multiple endocrine hyperfunction, and polyostotic fibrous dysplasia. A somatic point mutation of Gsalpha protein leads to an increase in the Gsalpha-associated hormone ..
  60. Nunez S, Calis K, Cutler G, Jones J, Feuillan P. Lack of efficacy of fadrozole in treating precocious puberty in girls with the McCune-Albright syndrome. J Clin Endocrinol Metab. 2003;88:5730-3 pubmed
    ..We conclude that fadrozole is not sufficiently potent to block estrogen synthesis in most girls with gonadotropin-independent precocious puberty due to the McCune-Albright syndrome and may impair the adrenocortical stress response...
  61. Downes G, Gautam N. The G protein subunit gene families. Genomics. 1999;62:544-52 pubmed
  62. Almeida J, Albuquerque L, Ferraz C, Mota I, Gondim J, Ferraz T. McCune-Albright syndrome and acromegaly: hormonal control with use of cabergoline and long-acting somatostatin--case report. Arq Bras Endocrinol Metabol. 2009;53:102-6 pubmed
    ..The use of drug therapy based on cabergoline, octreotide and long-acting release (LAR) octreotide has presented varying results in the treatment of GH excessive production in patients with McCune-Albright Syndrome...
  63. Hauffa B, Havers W, Stolecke H. Short-term effects of testolactone compared to other treatment modalities on longitudinal growth and ovarian activity in a girl with McCune-Albright syndrome. Helv Paediatr Acta. 1987;42:471-80 pubmed
    ..Both parameters normalized with cyproterone acetate and testolactone. Height velocity SDS, however, was higher with testolactone (0.97 vs. 0.45)...
  64. Bullmann V, Waurick R, Rodl R, Hulskamp G, Orlowski O, Van Aken H, et al. [Corrective osteotomy of the humerus using perivascular axillary anesthesia according to Weber in a patient suffering from McCune-Albright syndrome]. Anaesthesist. 2005;54:889-94 pubmed
    ..An extension of analgesia was observed up to the complete upper arm region. Using the modified positioning an extension of brachial plexus anesthesia is possible...
  65. Gomes M, Camargo A, Sampaio T, Graziozi M, Armond M. Oral manifestations of Albright hereditary osteodystrophy: a case report. Rev Hosp Clin Fac Med Sao Paulo. 2002;57:161-6 pubmed
    ..We also discuss the odontological management of treatment of related periodontal disease and planning for corrections of related malocclusions...
  66. Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, et al. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet A. 2003;122A:261-5 pubmed
    ..3-qter monosomy ascertained in our patient is the smallest so far described within the syndrome's critical interval, and may thus enhance the search for the responsible genes...
  67. Carvalho J, Diegoli M, Carvalho F, Diegoli C. Adnexal torsion following gonadotropin-releasing hormone analog therapy: a case report. Rev Hosp Clin Fac Med Sao Paulo. 2004;59:128-30 pubmed
    ..At laparotomy, we found a complete torsion in the right adnexa. The histological examination revealed massive edema associated with multiple antral follicles and reduction of the follicular reserve...
  68. Huston T, Simmons R. Ductal carcinoma in situ in a 27-year-old woman with McCune-Albright syndrome. Breast J. 2004;10:440-2 pubmed
    ..of irregularly edged hyperpigmented macules (café au lait spots); a slowly progressive bone disorder, polyostotic fibrous dysplasia, usually involving the base of the skull and the long bones; and luteinizing hormone-releasing hormone ..
  69. Lavoue V, Morcel K, Bouchard P, Sultan C, Massart C, Grall J, et al. Restoration of ovulation after unilateral ovariectomy in a woman with McCune-Albright syndrome: a case report. Eur J Endocrinol. 2008;158:131-4 pubmed publisher
    ..syndrome (MAS) is characterized by peripheral precocious puberty, café-au-lait spots, and polyostotic fibrous dysplasia. This syndrome is due to a post-zygotic mutation of the GNAS1 gene with mosaic distribution and ..
  70. Coutant R, Lumbroso S, Rey R, Lahlou N, Venara M, Rouleau S, et al. Macroorchidism due to autonomous hyperfunction of Sertoli cells and G(s)alpha gene mutation: an unusual expression of McCune-Albright syndrome in a prepubertal boy. J Clin Endocrinol Metab. 2001;86:1778-81 pubmed
    ..This observation demonstrates the usefulness of detailed molecular and biological investigations in atypical cases of MAS...
  71. Savage M, Chan L, Grossman A, Storr H. Work-up and management of paediatric Cushing's syndrome. Curr Opin Endocrinol Diabetes Obes. 2008;15:346-51 pubmed publisher
    ..A protocol for investigation of the child with suspected Cushing's syndrome is presented followed by principles of management...
  72. Riminucci M, Robey P, Bianco P. The pathology of fibrous dysplasia and the McCune-Albright syndrome. Pediatr Endocrinol Rev. 2007;4 Suppl 4:401-11 pubmed
  73. Osada Y, Iwasawa M, Tanaka Y. Use of image-guiding template for contouring surgery of midfacial fibrous dysplasia. Ann Plast Surg. 2007;59:459-63 pubmed
    ..With the image designed with this template, we could contour the deformity of midfacial fibrous dysplasia symmetrically and easily...
  74. Ozono K. [GNAS1 gene abnormality in pseudohypoparathyroidism I a]. Clin Calcium. 2007;17:1214-9 pubmed
    ..PHP type I a is associated with Albright's osteodystrophy (AHO). Those patients who have AHO phenotype without hormone resistance are affected by pseudopseudohypoparathyroidism...
  75. De Jesus H. Images in clinical medicine. A quarter-century of fibrous dysplasia. N Engl J Med. 2003;349:e2 pubmed
  76. Rojas R, Palacios E, Kaplan J, Wong L. Fibrous dysplasia of the frontal sinus. Ear Nose Throat J. 2004;83:14-5 pubmed
  77. Wikiera B, Wawro J, Noczynska A. [Precocious puberty caused by McCune-Albright syndrome in a girl aged 6 years and 9 months]. Endokrynol Diabetol Chor Przemiany Materii Wieku Rozw. 2006;12:63-7 pubmed
    The McCune-Albright syndrome is characterised by polyostotic fibrous dysplasia, "cafe-au-lait" spots and autonomous hyperfunction of various endocrine organs...
  78. Maesaka H, Abe Y, Tachibana K, Adachi M, Asakura Y. Ovarian function in three female patients with McCune-Albright syndrome with persistent autonomous ovarian activity. J Pediatr Endocrinol Metab. 2002;15 Suppl 3:903-11 pubmed
    ..In the remaining patient with bilateral involvement of tissues, relatively high LH and low FSH levels throughout a cycle were found with no rise in urinary pregnanediol...
  79. Ippolito E, Caterini R, Farsetti P, Potenza V. Surgical treatment of fibrous dysplasia of bone in McCune-Albright syndrome. J Pediatr Endocrinol Metab. 2002;15 Suppl 3:939-44 pubmed
    Seven patients affected by McCune-Albright syndrome with polyostotic fibrous dysplasia were operated on either for fracture fixation or for correction of bone deformity...
  80. Roka Y, Paudel G, Khatri B, Munakomi S. Clinical, radiological and endocrinological findings in a case of McCune-Albright syndrome. Turk Neurosurg. 2010;20:508-11 pubmed publisher
    The McCune-Albright syndrome was described as a syndrome of polyostotic fibrous dysplasia, café au lait skin pigmentation, and autonomous endocrine hyperfunction in 1937...