Asian Journal of Nursing Education and Research

Open Access Open Access  Restricted Access Subscription Access
Open Access Open Access Open Access  Restricted Access Restricted Access Subscription Access

Mccune-Albright Syndrome


Affiliations
1 Deputy Nursing Officer, SRI Ramakrishna Hospital, Coimbatore – 44, India
     

   Subscribe/Renew Journal


McCune-Albright syndrome is a rare and challenging congenital sporadic disease involving the skin and skeletal and endocrine systems. In addition to the classical triad of fibrous dysplasia of bone, cafe au lait pigmented skin lesions and precocious puberty, other multiple endocrinological features, including hyperthyroidism, growth hormone excess, hypercortisolism, and hypophosphatemic rickets, have been reported. A brief review of the syndrome in children is here reported.

Keywords

McCune–Albright Syndrome, Endocrinopathies, Precocious Puberty Cafe au lait Skin Pigmentation, Fibrous Dysplasia of Bone.
Subscription Login to verify subscription
User
Notifications
Font Size


  • Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008 May 19;3:12. [PMC free article] [PubMed].

  • Boyce, Alison M.; Collins, Michael T. (1993). "Fibrous Dysplasia/McCune-Albright Syndrome". In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Mefford, Heather C.; Stephens, Karen; Amemiya, Anne; Ledbetter, Nikki (eds.). GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 25719192.

  • McCune, Donovan J.; Bruch, Hilde (1937). "Progress in Pediatrics: Osteodystrophia Fibrosa". Archives of Pediatrics and Adolescent Medicine. 54 (4): 806. doi:10.1001/archpedi.1937.01980040110009.

  • Albright F, Butler AM, Hampton AO, Smith P (1937). "Syndrome characterized by osteitis fibrosa disseminata, areas of pigmentation and endocrine dysfunction, with precocious puberty in females: report of five cases". N. Engl. J. Med. 216 (17): 727–746. doi:10.1056/NEJM193704292161701.

  • "McCune-Albright syndrome". NIH Library. Retrieved 6 January 2018.

  • Plensdorf S, Martinez J (January 2009). "Common pigmentation disorders". American Family Physician. 79 (2): 109–16. PMID 19178061.

  • Turan S, Bastepe M. GNAS Spectrum of Disorders. Curr Osteoporos Rep. 2015 Jun;13(3):146-58. [PMC free article] [PubMed]

  • Anderson, Sharon (January 2020). "Cafe au Lait Macules and Associated Genetic Syndromes". Journal of Pediatric Health Care. 34 (1): 71–81. doi:10.1016/j.pedhc.2019.05.001. ISSN 1532-656X. PMID 31831114.

  • Boyce, Alison M.; Collins, Michael T. (2020-04-01). "Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation". Endocrine Reviews. 41(2). doi:10.1210/endrev/bnz011. ISSN 1945-7189. PMC 7127130. PMID 31673695

  • Estrada, Andrea; Boyce, Alison M.; Brillante, Beth A.; Guthrie, Lori C.; Gafni, Rachel I.; Collins, Michael T. (November 2016). "Long-term Outcomes of Letrozole Treatment for Precocious Puberty in Girls with McCune-Albright Syndrome". European Journal of Endocrinology. 175 (5): 477–483. doi:10.1530/EJE-16-0526. ISSN 0804-4643. PMC 5066167. PMID 27562402.

  • Boyce, Alison M; Collins, Michael T (1993). "Fibrous Dysplasia/McCune-Albright Syndrome". Fibrous Dysplasia/McCune-Albright Syndrome Gene Reviews. NCBI Books. University of Washington, Seattle. Retrieved 6 January 2018

  • Celi, Francesco S.; Coppotelli, Giuseppe; Chidakel, Aaron; Kelly, Marilyn; Brillante, Beth A.; Shawker, Thomas; Cherman, Natasha; Feuillan, Penelope P.; Collins, Michael T. (June 2008). "The Role of Type 1 and Type 2 5′-Deiodinase in the Pathophysiology of the 3,5,3′-Triiodothyronine Toxicosis of McCune-Albright Syndrome". The Journal of Clinical Endocrinology and Metabolism. 93 (6): 2383–2389. doi:10.1210/jc.2007-2237. ISSN 0021-972X. PMC 2435649. PMID 18349068.

  • Salenave, Sylvie; Boyce, Alison M.; Collins, Michael T.; Chanson, Philippe (June 2014). "Acromegaly and McCune-Albright Syndrome". The Journal of Clinical Endocrinology and Metabolism. 99 (6): 1955–1969. doi:10.1210/jc.2013-3826. ISSN 0021-972X. PMC 4037730. PMID 24517150

  • Cutler, Carolee M.; Lee, Janice S.; Butman, John A.; FitzGibbon, Edmond J.; Kelly, Marilyn H.; Brillante, Beth A.; Feuillan, Penelope; Robey, Pamela G.; DuFresne, Craig R.; Collins, Michael T. (November 2006). "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. 59 (5): 1011–1017, discussion 1017–1018. doi:10.1227/01.NEU.0000254440.02736.E3. ISSN 1524-4040. PMID 17143235. S2CID 19550908.

  • Boyce, Alison M.; Brewer, Carmen; DeKlotz, Timothy R.; Zalewski, Christopher K.; King, Kelly A.; Collins, Michael T.; Kim, H. Jeffrey (1 February 2018). "Association of Hearing Loss and Otologic Outcomes With Fibrous Dysplasia". JAMA Otolaryngology–Head and Neck Surgery. 144 (2): 102–107. doi:10.1001/jamaoto.2017.2407. ISSN 2168-619X. PMC 5839293. PMID 29192304

  • Brown, Rebecca J.; Kelly, Marilyn H.; Collins, Michael T. (April 2010). "Cushing Syndrome in the McCune-Albright Syndrome". The Journal of Clinical Endocrinology and Metabolism. 95 (4): 1508–1515. doi:10.1210/jc.2009-2321. ISSN 0021-972X. PMC 2853983. PMID 20157193.

  • Boyce, Alison M.; Collins, Michael T. (2020-04-01). "Fibrous Dysplasia/McCune-Albright Syndrome: A Rare, Mosaic Disease of Gα s Activation". Endocrine Reviews. 41(2). doi:10.1210/endrev/bnz011. ISSN 1945-7189. PMC 7127130. PMID 31673695.

  • Kushchayeva, Yevgeniya S.; Kushchayev, Sergiy V.; Glushko, Tetiana Y.; Tella, Sri Harsha; Teytelboym, Oleg M.; Collins, Michael T.; Boyce, Alison M. (December 2018). ISSN 1869-4101. PMC 6269335. PMID 30484079.

  • Javaid, Muhammad Kassim; Boyce, Alison; Appelman-Dijkstra, Natasha; Ong, Juling; Defabianis, Patrizia; Offiah, Amaka; Arundel, Paul; Shaw, Nick; Pos, Valter Dal; Underhil, Ann; Portero, Deanna (13 June 2019). "Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium". Orphanet Journal of Rare Diseases. 14 (1): 139. doi:10.1186/s13023-019-1102-9. ISSN 1750-1172. PMC 6567644. PMID 31196103.

  • Garibaldi LR, Chemaitilly W. Disorders"Fibrous dysplasia for radiologists: beyond ground glass bone matrix". Insights into Imaging. 9 (6): 1035–1056. doi:10.1007/s13244-018-0666-6. of pubertal development. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 578.

  • Styne DM. Physiology and disorders of puberty. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap

  • Robinson C, Collins MT, Boyce AM. Fibrous Dysplasia/McCune-Albright Syndrome: Clinical and Translational Perspectives. Curr Osteoporos Rep. 2016 Oct;14(5):178-86. doi: 10.1007/s11914-016-0317-0. Review. Citation on PubMed or Free article on PubMed Central

  • Salpea P, Stratakis CA. Carney complex and McCune Albright syndrome: an overview of clinical manifestations and human molecular genetics. Mol Cell Endocrinol. 2014 Apr 5;386(1-85-91. doi: 10.1016/j.mce.2013.08.022. Epub 2013 Sep 5. Review. Citation on PubMed or Free article on PubMed Central

  • Yao Y, Liu Y, Wang L, Deng K, Yang H, Lu L, Feng F, Xing B, You H, Jin Z, Wang R, Pan H, Chen S, Zhu H. Clinical characteristics and management of growth hormone excess in patients with McCune-Albright syndrome. Eur J Endocrinol. 2017 Mar;176(3):295-303. doi: 10.1530/EJE-16-0715. Epub 2016 Dec 22. Citation on PubMed

  • Chen M, Eugster EA. Central Precocious Puberty: Update on Diagnosis and Treatment. Paediatr Drugs. 2015 Aug;17(4):273-81. [PMC free article] [PubMed]

  • Estrada A, Boyce AM, Brillante BA, Guthrie LC, Gafni RI, Collins MT. Long-term outcomes of letrozole treatment for precocious puberty in girls with McCune-Albright syndrome. Eur J Endocrinol. 2016 Nov;175(5):477-483. [PMC free article] [PubMed]

  • de G Buff Passone C, Kuperman H, Cabral de Menezes-Filho H, Spassapan Oliveira Esteves L, Lana Obata Giroto R, Damiani D. Tamoxifen Improves Final Height Prediction in Girls with McCune-Albright Syndrome: A Long Follow-Up. Horm Res Paediatr. 2015;84(3):184-9. [PubMed

  • Shetty S, Varghese RT, Shanthly N, Paul TV. Toxic Thyroid Adenoma in McCune-Albright Syndrome. J Clin Diagn Res. 2014 Feb;8(2):281-2. [PMC free article] [PubMed]

  • Chakraborty D, Mittal BR, Kashyap R, Manohar K, Bhattacharya A, Bhansali A. Radioiodine treatment in McCune-Albright syndrome with hyperthyroidism. Indian J Endocrinol Metab. 2012 Jul;16(4):654-6. [PMC free article] [PubMed].

  • Belsuzarri TA, Araujo JF, Melro CA, Neves MW, Navarro JN, Brito LG, Pontelli LO, de Abreu Mattos LG, Gonçales TF, Zeviani WM. McCune-Albright syndrome with craniofacial dysplasia: Clinical review and surgical management. Surg Neurol Int. 2016;7(Suppl 6):S165-9. [PMC free article] [PubMed].

  • Salenave, Sylvie; Boyce, Alison M.; Collins, Michael T.; Chanson, Philippe (June 2014). "Acromegaly and McCune-Albright syndrome". The Journal of Clinical Endocrinology and Metabolism. 99 (6): 1955–1969. doi:10.1210/jc.2013-3826. ISSN 1945-7197. PMC 4037730. PMID 24517150.

  • Avaid, Muhammad Kassim; Boyce, Alison; Appelman-Dijkstra, Natasha; Ong, Juling; Defabianis, Patrizia; Offiah, Amaka; Arundel, Paul; Shaw, Nick; Pos, Valter Dal; Underhil, Ann; Portero, Deanna (13 June 2019). "Best practice management guidelines for fibrous dysplasia/McCune-Albright syndrome: a consensus statement from the FD/MAS international consortium". Orphanet Journal of Rare Diseases. 14 (1): 139. doi:10.1186/s13023-019-1102-9. ISSN 1750-1172. PMC 6567644. PMID 31196103.

  • KidsHealth. Retrieved 2013-09-09.

  • Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008 May 19. 3:12. [Medline].

  • Reference, Genetics Home. "McCune-Albright syndrome". Genetics Home Reference. Retrieved 2018-10-30.

  • Bolognia, Jean L.; et al. (2007). Dermatology. St. Louis: Mosby. ISBN 1-4160-2999-0.

  • James, William D.; et al. (2006). Andrews' Diseases of the Skin: Clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0

  • Brillante B, Guthrie L, Van Ryzin C. McCune-Albright Syndrome: An Overview of Clinical Features. J Pediatr Nurs. 2015 Sep-Oct;30(5):815-7. doi: 10.1016/j.pedn.2015.06.009. Epub 2015 Jul 21. Review. Citation on PubMed

  • Styne DM. Physiology and disorders of puberty. In: Melmed S, Auchus RJ, Goldfine AB, Koenig RJ, Rosen CJ, eds. Williams Textbook of Endocrinology. 14th ed. Philadelphia, PA: Elsevier; 2020:chap 26.

  • Nielsen GP, Layeld LJ, Rosenberg AE. Neoplastic and tumor like lesions of bone. In: Silverberg SG, DeLellis RA, Frable WJ, LiVolsi VA, Wick MR, editors. Silverberg's Principles and Practice of Surgical Pathology and Cytopathology. 4th ed. Vol. 1. Philadelphia: Churchill Livingstone Elsevier; 2006. pp. 740

  • Chapurlat RD. Chapurlat RD. J Bone Miner Res. 2006 Dec;21 Suppl 2:P114-9. doi: 10.1359/jbmr.06s222. J Bone Miner Res. 2006. PMID: 17228999 Review.

  • Howard, S. R.; Dunkel, L. (2018). "The Genetic Basis of Delayed Puberty". Neuroendocrinology. 106 (3): 283–291. doi:10.1159/000481569. PMID 28926843. S2CID 4772278

  • Dumitrescu CE, Collins MT. McCune-Albright syndrome. Orphanet J Rare Dis. 2008 May 19;3:12. [PMC free article] [PubMed].

  • 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 Apr;19(4):571-7.

  • Benhamou J, Gensburger D, Messiaen C, Chapurlat R. Prognostic Factors from an Epidemiologic Evaluation of Fibrous Dysplasia of Bone in a Modern Cohort: The FRANCEDYS Study. J Bone Miner Res. 2016 Dec;31(12):2167-2172. [PubMed].

  • Chen M, Eugster EA. Central Precocious Puberty: Update on Diagnosis and Treatment. Paediatr Drugs. 2015 Aug;17(4):273-81. [PMC free article] [PubMed].

  • Leet AI, Collins MT. Current approach to fibrous dysplasia of bone and McCune-Albright syndrome. J Child Orthop. 2007 Mar;1(1):3-17. [PMC free article] [PubMed].

  • Bercaw-Pratt JL, Moorjani TP, Santos XM, Karaviti L, Dietrich JE. Diagnosis and management of precocious puberty in atypical presentations of McCune-Albright syndrome: a case series review. J Pediatr Adolesc Gynecol. 2012 Feb;25(1):e9-e13. [PubMed].


Abstract Views: 124

PDF Views: 0




  • Mccune-Albright Syndrome

Abstract Views: 124  |  PDF Views: 0

Authors

P. A. Rejini
Deputy Nursing Officer, SRI Ramakrishna Hospital, Coimbatore – 44, India

Abstract


McCune-Albright syndrome is a rare and challenging congenital sporadic disease involving the skin and skeletal and endocrine systems. In addition to the classical triad of fibrous dysplasia of bone, cafe au lait pigmented skin lesions and precocious puberty, other multiple endocrinological features, including hyperthyroidism, growth hormone excess, hypercortisolism, and hypophosphatemic rickets, have been reported. A brief review of the syndrome in children is here reported.

Keywords


McCune–Albright Syndrome, Endocrinopathies, Precocious Puberty Cafe au lait Skin Pigmentation, Fibrous Dysplasia of Bone.

References