Fibrous dysplasia of bone in McCune-Albright syndrome: pathophysiology, clinical aspects and treatment

Published on July 31, 2024   22 min

A selection of talks on Clinical Practice

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Fibrous Dysplasia of Bone in McCune-Albright Syndrome. Pathophysiology, Clinical Aspects, and Treatment by Ernesto Ippolito, Professor Emeritus of Orthopedic Surgery, University of Rome, Tor Vergata, Italy; and Davide Lardo, senior resident, Department of Orthopedic Surgery, University of Rome, Tor Vergata, and Senior Medical Officer of the Military Hospital of Rome, Attilio Frigeri, Italy.
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Definition and prevalence. McCune-Albright syndrome is a rare genetic pathologic condition affecting endocrine glands, skin, and bone.
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Etiopathogenesis. The mutated GNAS gene overstimulates the production of intracellular cAMP in endocrine glands, skin melanocytes, and osteogenic cells. The mutation is post-zygotic, producing a mosaic state in which both normal and pathologic tissues coexist.
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Endocrine system. Gonads, thyroid, pituitary, and adrenal glands are the most frequently affected with the overproduction of their specific hormones.
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Skin. Melanocytes are overstimulated with the formation of cafe-au-lait skin macules. Muscle.

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Fibrous dysplasia of bone in McCune-Albright syndrome: pathophysiology, clinical aspects and treatment

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