McCune Albright syndrome

Common Name(s)

McCune Albright syndrome, McCune-Albright Syndrome

McCune-Albright syndrome (MAS) is a disease that affects the bones, skin, and several hormone-producing (endocrine) tissues. It is characterized by replacement of normal bone tissue with areas of abnormal fibrous growth (fibrous dysplasia); patches of abnormal skin coloring with jagged borders (cafe-au-lait spots); and abnormalities in the glands that regulate the body's rate of growth, sexual development, and other metabolic functions (multiple endocrine dysfunction). MAS is caused by a change (mutation) in the GNAS gene that occurs by chance very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of MAS and its features depend on the number and location of cells that have the mutated GNAS gene. Because MAS occurs by chance, it is not inherited or passed down from one generation to the next.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McCune Albright syndrome" for support, advocacy or research.

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

Last Updated: 12 Dec 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

Last Updated: 7 Nov 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "McCune Albright syndrome" for support, advocacy or research.

Fibrous Dysplasia Foundation

The Fibrous Dysplasia Foundation provides information, advocacy and support for patients, medical professionals and the general public and promote research for diagnosis, treatment and a cure for Fibrous Dysplasia (FD) and McCune-Albright's Syndrome (MAS), Cherubism and related diseases. Our goal is to improve the quality of life for affected individuals and their families.

http://www.fibrousdysplasia.org/

Last Updated: 12 Dec 2012

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The MAGIC Foundation

The MAGIC Foundation Mission The MAGIC Foundation is a national non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child’s growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders.

http://www.magicfoundation.org

Last Updated: 7 Nov 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "McCune Albright syndrome" returned 47 free, full-text research articles on human participants. First 3 results:

Dental perspectives in fibrous dysplasia and McCune-Albright syndrome.
 

Author(s): Sunday O Akintoye, Alison M Boyce, Michael T Collins

Journal: Oral Surg Oral Med Oral Pathol Oral Radiol. 2013 Sep;116(3):e149-55.

 

McCune-Albright syndrome (MAS) is a rare multisystem disorder characterized by the triad of polyostotic fibrous dysplasia (FD), endocrine disorders, and café-au-lait skin pigmentation. Ninety percent of MAS patients have FD lesions in the craniofacial area, resulting in significant ...

Last Updated: 19 Aug 2013

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Quantitative and sensitive detection of GNAS mutations causing mccune-albright syndrome with next generation sequencing.
 

Author(s): Satoshi Narumi, Kumihiro Matsuo, Tomohiro Ishii, Yusuke Tanahashi, Tomonobu Hasegawa

Journal: PLoS ONE. 2013 ;8(3):e60525.

 

Somatic activating GNAS mutations cause McCune-Albright syndrome (MAS). Owing to low mutation abundance, mutant-specific enrichment procedures, such as the peptide nucleic acid (PNA) method, are required to detect mutations in peripheral blood. Next generation sequencing (NGS) can ...

Last Updated: 28 Mar 2013

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Sinonasal disease in polyostotic fibrous dysplasia and McCune-Albright Syndrome.
 

Author(s): Timothy R DeKlotz, Hung Jeffrey Kim, Marilyn Kelly, Michael T Collins

Journal: Laryngoscope. 2013 Apr;123(4):823-8.

 

To characterize the spectrum, symptoms, progression, and effects of endocrine dysfunction on sinonasal disease in polyostotic fibrous dysplasia (PFD) and McCune-Albright Syndrome (MAS).

Last Updated: 26 Mar 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "McCune Albright syndrome" returned 5 free, full-text review articles on human participants. First 3 results:

McCune-Albright syndrome and the extraskeletal manifestations of fibrous dysplasia.
 

Author(s): Michael T Collins, Frederick R Singer, Erica Eugster

Journal: Orphanet J Rare Dis. 2012 May;7 Suppl 1():S4.

 

Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated ...

Last Updated: 29 May 2012

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CT and MRI in the evaluation of craniospinal involvement with polyostotic fibrous dysplasia in McCune-Albright syndrome.
 

Author(s): Nail Bulakbaşi, Uğur Bozlar, Ibrahim Karademir, Murat Kocaoğlu, Ibrahim Somuncu

Journal: Diagn Interv Radiol. 2008 Dec;14(4):177-81.

 

In this study, the efficacy of computed tomography (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. In CT, ground-glass appearance ...

Last Updated: 8 Dec 2008

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[Hyperthyroidism related to McCune-Albright syndrome: report of two cases and review of the literature].
 

Author(s): Ana Carolina R Sallum, Fernando D Leonhardt, Onivaldo Cervantes, Márcio Abrahão, Reinaldo K Yazaki

Journal: Arq Bras Endocrinol Metabol. 2008 Apr;52(3):556-61.

 

McCune-Albright syndrome is a sporadic disease clinicaly characterized by polyostotic fibrous dysplasia, "café-au-lait" cutaneous spots and hyperfunctional endocrinopathies, such as precocious puberty, hyperthyroidism, acromegaly and others. The biologic physiopathology of the disease ...

Last Updated: 28 May 2008

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Histamine Responsiveness in McCune-Albright Syndrome
 

Status: Recruiting

Condition Summary: McCune-Albright Syndrome

 

Last Updated: 1 May 2006

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Screening and Natural History of Patients With Polyostotic Fibrous Dysplasia and McCune-Albright Syndrome
 

Status: Recruiting

Condition Summary: Polyostotic Fibrous Dysplasia

 

Last Updated: 11 Nov 2014

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TOCILIZUMAB IN FIBROUS DYSPLASIA OF BONE
 

Status: Recruiting

Condition Summary: Fibrous Dysplasia of Bone

 

Last Updated: 14 Mar 2013

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