eMedicine Specialties > Endocrinology > Multiple Endocrine Disease and Miscellaneous Endocrine Disease

McCune-Albright Syndrome: Multimedia

Author: Gabriel I Uwaifo, MBBS, Clinical and Research Attending, Assistant Professor of Medicine and Endocrinology, MedStar Clinical Research Center, MedStar Research Institute and Washington Hospital Center
Coauthor(s): Nicholas J Sarlis, MBBS, MD, PhD, FACP, Medical Director, Department of Oncology-US Medical Affairs Department, Sanofi-Aventis Pharmaceuticals
Contributor Information and Disclosures

Updated: Dec 18, 2008

Multimedia

Base of the skull computed tomography scan showin...
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Media file 1: Base of the skull computed tomography scan showing extensive fibrous dysplasia. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling.
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Base of the skull computed tomography scan showin...

Base of the skull computed tomography scan showing extensive fibrous dysplasia. Note the asymmetrical affectation, with near-total obliteration of various neural foramina at the base of the skull. This degree of fibrous dysplasia can result in multiple cranial nerve compression neuropathies, of which blindness and deafness (from involvement of cranial nerves II and VIII) are among the most disabling.

Café au lait spot. This is a fairly large, i...
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Media file 2: Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule/patch. The degree of pigmentation is fairly uniform.
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Café au lait spot. This is a fairly large, i...

Café au lait spot. This is a fairly large, irregular-edged ("coast-of-Maine" variety) lesion. It presents as a brownish, otherwise-asymptomatic macule/patch. The degree of pigmentation is fairly uniform.

Fibrous dysplasia of a long bone characterized by...
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Media file 3: Fibrous dysplasia of a long bone characterized by focal bony expansion, patchy areas of sclerosis, and bony cyst formation.
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Fibrous dysplasia of a long bone characterized by...

Fibrous dysplasia of a long bone characterized by focal bony expansion, patchy areas of sclerosis, and bony cyst formation.

This plain skull radiograph shows marked macrocra...
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Media file 4: This plain skull radiograph shows marked macrocrania, frontal bossing, and a markedly thickened bony table in patchy areas, particularly at the base of the skull and occiput. The skull also shows the hair-on-end appearance suggestive of Paget disease or poorly controlled hemoglobinopathy (eg, beta thalassemia, sickle cell disease).
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This plain skull radiograph shows marked macrocra...

This plain skull radiograph shows marked macrocrania, frontal bossing, and a markedly thickened bony table in patchy areas, particularly at the base of the skull and occiput. The skull also shows the hair-on-end appearance suggestive of Paget disease or poorly controlled hemoglobinopathy (eg, beta thalassemia, sickle cell disease).

More on McCune-Albright Syndrome

Overview: McCune-Albright Syndrome
Differential Diagnoses & Workup: McCune-Albright Syndrome
Treatment & Medication: McCune-Albright Syndrome
Follow-up: McCune-Albright Syndrome
Multimedia: McCune-Albright Syndrome
References
Further Reading
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References

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  2. Weinstein LS. Other skeletal diseases resulting from G protein defects--fibrous dysplasia and McCune Albright syndrome. In: Bilezikian JP, Raisz LG, Rodan GA, eds. Principles of Bone Biology. San Diego, Calif: Academic Press; 1996:877-87.

  3. Rosen D, Kelch RP. Precocious and delayed puberty. In: Becker KL, Bilezikian JP, Hung W, et al, eds. Principles and Practice of Endocrinology and Metabolism. 2nd ed. Philadelphia, Pa: JB Lippincott; 1995:830-42.

  4. Cavanah SF, Dons RF. McCune-Albright syndrome: how many endocrinopathies can one patient have?. South Med J. Mar 1993;86(3):364-7. [Medline].

  5. Faivre L, Nivelon-Chevallier A, Kottler ML, et al. Mazabraud syndrome in two patients: clinical overlap with McCune-Albright syndrome. Am J Med Genet. Mar 1 2001;99(2):132-6. [Medline].

  6. Thomachot B, Daumen-Legre V, Pham T. Fibrous dysplasia with intramuscular myxoma (Mazabraud's syndrome). Report of a case and review of the literature. Rev Rhum Engl Ed. Mar 1999;66(3):180-3. [Medline].

  7. Cohen MM Jr, Howell RE. Etiology of fibrous dysplasia and McCune-Albright syndrome. Int J Oral Maxillofac Surg. Oct 1999;28(5):366-71. [Medline].

  8. de Sanctis C, Lala R, Matarazzo P. McCune-Albright syndrome: a longitudinal clinical study of 32 patients. J Pediatr Endocrinol Metab. Nov-Dec 1999;12(6):817-26. [Medline].

  9. Bhansali A, Sharma BS, Sreenivasulu P, et al. Acromegaly with fibrous dysplasia: McCune-Albright Syndrome--clinical studies in 3 cases and brief review of literature. Endocr J. Dec 2003;50(6):793-9. [Medline]. [Full Text].

  10. Chapurlat RD, Orcel P. Fibrous dysplasia of bone and McCune-Albright syndrome. Best Pract Res Clin Rheumatol. Mar 2008;22(1):55-69. [Medline].

  11. Endo M, Yamada Y, Matsuura N. Monozygotic twins discordant for the major signs of McCune-Albright syndrome. Am J Med Genet. Nov 1 1991;41(2):216-20. [Medline].

  12. Celi FS, Coppotelli G, Chidakel A, et al. The role of type 1 and type 2 5'-deiodinase in the pathophysiology of the 3,5,3'-triiodothyronine toxicosis of McCune-Albright syndrome. J Clin Endocrinol Metab. Jun 2008;93(6):2383-9. [Medline].

  13. Bulakbasi N, Bozlar U, Karademir I, et al. CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndrome. Diagn Interv Radiol. Dec 2008;14(4):177-181. [Medline].

  14. Akintoye SO, Chebli C, Booher S, et al. Characterization of gsp-mediated growth hormone excess in the context of McCune-Albright syndrome. J Clin Endocrinol Metab. Nov 2002;87(11):5104-12. [Medline]. [Full Text].

  15. Mieszczak J, Lowe ES, Plourde P, et al. The aromatase inhibitor anastrozole is ineffective in the treatment of precocious puberty in girls with McCune-Albright syndrome. J Clin Endocrinol Metab. Jul 2008;93(7):2751-4. [Medline].

  16. Bonat S, Shenker A, Monroe J. Papillary thyroid carcinoma (PTC) in a child with McCune-Albright syndrome (MAS): more than a random association?. Proceedings of the 82nd Annual Meeting of the Endocrine Society; Toronto, Canada. June 2000;P-2099.

  17. Collins MT, Shenker A, Monroe J. Clear cell thyroid carcinoma in a patient with McCune-Albright syndrome: Clinical description and analysis of tumor features. Proceedings of the 81st Annual Meeting of the Endocrine Society; San Diego, Calif. June 1999;P2-727.

  18. Feuillan PP. McCune Albright syndrome. In: Bardin CW, ed. Current Therapy in Endocrinology and Metabolism. 6th ed. St Louis, Mo: Mosby-Yearbook; 1997:235-9.

  19. Gurler T, Alper M, Gencosmanoglu R. McCune-Albright syndrome progressing with severe fibrous dysplasia. J Craniofac Surg. Jan 1998;9(1):79-82. [Medline].

  20. Leet AI, Chebli C, Kushner H, et al. Fracture incidence in polyostotic fibrous dysplasia and the McCune-Albright syndrome. J Bone Miner Res. Apr 2004;19(4):571-7. [Medline].

  21. Lumbroso S, Paris F, Sultan C. McCune-Albright syndrome: molecular genetics. J Pediatr Endocrinol Metab. 2002;15 Suppl 3:875-82. [Medline].

  22. Olsen BR. "A rare disorder, yes; an unimportant one, never" [editorial]. J Clin Invest. Apr 15 1998;101(8):1545-6. [Medline]. [Full Text].

  23. Raisz LG, Kream BE, Lorenzo JA. Metabolic bone disease. In: Wilson JD, Foster DW, Kronenberg HM, eds. William's Textbook of Endocrinology. 9th ed. Philadelphia, Pa: WB Saunders; 1998:1211-39.

  24. Riminucci M, Collins MT, Fedarko NS, et al. FGF-23 in fibrous dysplasia of bone and its relationship to renal phosphate wasting. J Clin Invest. Sep 2003;112(5):683-92. [Medline]. [Full Text].

  25. Spiegel AM. Inborn errors of signal transduction: mutations in G proteins and G protein-coupled receptors as a cause of disease. J Inherit Metab Dis. Jun 1997;20(2):113-21. [Medline].

  26. Spiegel AM, Weinstein LS. Inherited diseases involving g proteins and g protein-coupled receptors. Annu Rev Med. 2004;55:27-39. [Medline].

  27. Szwajkun P, Chen YR, Yeow VK. The "Taiwanese giant": hormonal and genetic influences in fibrous dysplasia. Ann Plast Surg. Jul 1998;41(1):75-80. [Medline].

  28. Tinschert S, Gerl H, Gewies A. McCune-Albright syndrome: clinical and molecular evidence of mosaicism in an unusual giant patient. Am J Med Genet. Mar 12 1999;83(2):100-8. [Medline].

  29. Uwaifo GI, Robey PG, Akintoye SO. Clinical picture: fuel on the fire. Lancet. Jun 23 2001;357(9273):2011. [Medline].

  30. Whyte MP. Rare disorders of skeletal formation and homeostasis. In: Becker KL, Bilezikian JP, Hung W, et al, eds. Principles and Practice of Endocrinology and Metabolism. 2nd ed. Philadelphia, Pa: JB Lippincott; 1995:594-606.

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Further Reading

Related eMedicine topics:
 Albright Syndrome
Café Au Lait Spots
Fibrous Dysplasia [Orthopedic Surgery]
Fibrous Dysplasia [Radiology]
Gigantism and Acromegaly
McCune-Albright Syndrome [Pediatrics: General Medicine]
Precocious Pseudopuberty
Precocious Puberty

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Keywords

McCune-Albright syndrome, hyperthyroidism, gynecomastia, thyroid gland, hyperparathyroidism, acromegaly, dysplasia, endocrine glands, Cushing syndrome, Cushing's syndrome, precocious puberty, fibrous dysplasia, endocrine gland, thyroid glands, cafe au lait spots, café au lait spots, endocrinopathy, McCune Albright syndrome, hyperprolactinemia, polyostotic fibrous dysplasia, Mazabraud syndrome

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Contributor Information and Disclosures

Author

Gabriel I Uwaifo, MBBS, Clinical and Research Attending, Assistant Professor of Medicine and Endocrinology, MedStar Clinical Research Center, MedStar Research Institute and Washington Hospital Center
Gabriel I Uwaifo, MBBS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Medical Association, American Society of Hypertension, and Endocrine Society
Disclosure: Nothing to disclose.

Coauthor(s)

Nicholas J Sarlis, MBBS, MD, PhD, FACP, Medical Director, Department of Oncology-US Medical Affairs Department, Sanofi-Aventis Pharmaceuticals
Nicholas J Sarlis, MBBS, MD, PhD, FACP is a member of the following medical societies: American Association for Cancer Research, American Association for the Advancement of Science, American Association of Clinical Endocrinologists, American College of Endocrinology, American College of Physicians, American Federation for Medical Research, American Head and Neck Society, American Medical Association, American Society for Therapeutic Radiology and Oncology, American Society of Clinical Oncology, American Thyroid Association, Association for Psychological Science, Endocrine Society, European Society for Medical Oncology, New York Academy of Sciences, and Royal Society of Medicine
Disclosure: Sanofi-Aventis Salary Employment

Medical Editor

Ghassem Pourmotabbed, MD†, Former Associate Professor, Department of Internal Medicine, Division of Endocrinology and Metabolism, University of Tennessee School of Medicine and Health Science Center
Ghassem Pourmotabbed, MD† is a member of the following medical societies: American Diabetes Association, American Federation for Medical Research, and Endocrine Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS, Professor of Medicine (Endocrinology, Adj), Johns Hopkins School of Medicine; Affiliate Research Professor, Bioinformatics and Computational Biology Program, School of Computational Sciences, George Mason University; Principal, C/A Informatics, LLC
Arthur B Chausmer, MD, PhD, FACP, FACE, FACN, CNS is a member of the following medical societies: American Association of Clinical Endocrinologists, American College of Endocrinology, American College of Nutrition, American College of Physician Executives, American College of Physicians, American College of Physicians-American Society of Internal Medicine, American Medical Informatics Association, American Society for Bone and Mineral Research, American Society of Law Medicine and Ethics, Endocrine Society, and International Society for Clinical Densitometry
Disclosure: Nothing to disclose.

CME Editor

Mark Cooper, MBBS, PhD, FRACP, Head, Diabetes & Metabolism Division, Baker Heart Research Institute, Professor of Medicine, Monash University
Disclosure: Nothing to disclose.

Chief Editor

George T Griffing, MD, Professor of Medicine, St Louis University School of Medicine
George T Griffing, MD is a member of the following medical societies: American Association for the Advancement of Science, American College of Medical Practice Executives, American College of Physician Executives, American College of Physicians, American Diabetes Association, American Federation for Medical Research, American Heart Association, Central Society for Clinical Research, Endocrine Society, International Society for Clinical Densitometry, and Southern Society for Clinical Investigation
Disclosure: Nothing to disclose.

 
 
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