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 Metabolism & Nutrition

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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 the endocrine glands, skin, and bone.
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Etiopathogenesis. The mutated GNAS gene overstimulates the production of intracellular cyclic AMP in endocrine glands, skin melanocytes and osteogenic cells. The mutation is post-zygotic, producing a mosaic state in which both normal and pathologic tissues coexists.
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Endocrine system. Gonads, thyroid, pituitary, and adrenal glands are most frequently affected with overproduction of the specific hormones.
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Skin. Melanocytes are overstimulated with formation of cafe-au-lait skin macules.
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Fibrous dysplasia of bone in McCune-Albright syndrome: pathophysiology, clinical aspects and treatment

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