McCune-Albright Syndrome Progressing With Severe Fibrous Dysplasia

Gürler, Tahir; Alper, Melvin G.; Gençosmanoğlu, Reha; Totan, Serhat; Güner, Ulvi; Akin, Yalçın

doi:10.1097/00001665-199801000-00017

Cited by 11 publications

(1 citation statement)

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“…Fibrous dysplasia of the tibia usually causes bowing. Fibrous bone dysplasia affects the mandible in 20% of patients with MAS, and when extensive skeletal involvement is seen, the craniofacial region is affected in almost 100% of cases 94 . The bone lesions progress in number and size until the end of the third decade, and then become relatively quiescent 18 .…”

Section: Bone Dysplasiamentioning

confidence: 99%

McCune-Albright Syndrome and Disorders Due to Activating Mutations of GNAS1

Díaz¹,

Danon²,

Crawford³

2007

Journal of Pediatric Endocrinology and Metabolism

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It has been more than seven decades since Drs. Fuller Albright and Donovan McCune published the first reports on individuals with McCune-Albright syndrome (MAS). Since then, the classic triad of precocious puberty, café-aulait spots, and polyostotic bone dysplasia continues to define the syndrome. However, having gathered a better picture of the pathophysiology of MAS, the way this condition is understood has changed. Isolated activating mutations of the alpha subunit of the G protein (GNAS1) have been found in different tissues, including pituitary adenomas, thyroid adenomas, ovarian cysts, monostotic bone dysplasia, and the adrenal glands, to name a few. For this reason, we have added 'and disorders due to activating mutations of GNAS1' to the title of this review. 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.

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Section: Bone Dysplasiamentioning

confidence: 99%

McCune-Albright Syndrome and Disorders Due to Activating Mutations of GNAS1

Díaz¹,

Danon²,

Crawford³

2007

Journal of Pediatric Endocrinology and Metabolism

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The Rare Phakomatoses

Edelstein

Naidich

Th³

2005

Pediatric Neuroradiology

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McCune-Albright Syndrome

Samoud

Hafsa²,

S³

et al. 2012

Atlas of Genetic Diagnosis and Counseling

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A ten-year-old female presented to our dermatology clinic with her mother, our patient, at which time we incidentally noted a large light brown patch on the daughter's cheek (shown above). The girl was a fifth grader in elementary school. On physical exam, a large brown smooth patch with jagged borders consistent with a caféau-lait patch was noted on the right cheek. The lesion was present since birth, was asymptomatic, and had grown in proportion with her growth overtime. The girl noted a history of early menses beginning at the age of two for which she follows with endocrinology. She noticed breast enlargement at the age of seven years old. She also noted a history of multiple bone fractures, most recently of the femur after falling in the yard. Musculoskeletal exam revealed asymmetric limb length with the left leg longer than the right. She was ambulating on crutches after fracturing her femur in a fall. Breast exam revealed large breasts relative to height and age. The remainder of the physical exam was non-contributory. DISCUSSION Given the clinical manifestations, the patient was diagnosed with McCune Albright Syndrome (MAS), a genetic syndrome characterized by the clinical triad of polyostotic fibrous dysplasia, endocrine

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McCune-Albright Syndrome Progressing With Severe Fibrous Dysplasia

Cited by 11 publications

References 0 publications

McCune-Albright Syndrome and Disorders Due to Activating Mutations of GNAS1

McCune-Albright Syndrome and Disorders Due to Activating Mutations of GNAS1

The Rare Phakomatoses

McCune-Albright Syndrome

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