{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T13:23:04Z","timestamp":1792156984456,"version":"4.4.0"},"reference-count":177,"publisher":"The Endocrine Society","issue":"2","funder":[{"DOI":"10.13039\/100000072","name":"National Institute of Dental and Craniofacial Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000072","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Fibrous dysplasia\/McCune-Albright syndrome (FD\/MAS) is a rare disorder of striking complexity. It arises from somatic, gain-of-function mutations in GNAS, leading to mosaic G\u03b1\u200as activation and inappropriate production of intracellular cyclic adenosine monophosphate (cAMP). The clinical phenotype is largely determined by the location and extent of affected tissues, and the pathophysiological effects of G\u03b1\u200as activation within these tissues. In bone, G\u03b1\u200as activation results in impaired differentiation of skeletal stem cells, leading to discrete skeletal lesions prone to fracture, deformity, and pain. Extraskeletal manifestations include a variable combination of hyperpigmented macules and hyperfunctioning endocrinopathies. Distinctive age-related changes in disease development has key effects on histologic, radiographic, and clinical features. FD\/MAS thus presents along a uniquely broad clinical spectrum, and the resulting challenges in diagnosis and management can be difficult for clinicians. This review presents FD\/MAS in the context of a mosaic disorder of G\u03b1\u200as activation, providing an intellectual framework within which to understand, evaluate, and treat this interesting disease. It includes a comprehensive summary of current understanding of FD\/MAS pathogenesis, and a detailed discussion of clinical presentation and management. Critical areas of unmet need are highlighted, including discussion of key challenges and potential solutions to advance research and clinical care in FD\/MAS.<\/jats:p>","DOI":"10.1210\/endrev\/bnz011","type":"journal-article","created":{"date-parts":[[2019,11,1]],"date-time":"2019-11-01T03:19:37Z","timestamp":1572578377000},"page":"345-370","source":"Crossref","is-referenced-by-count":199,"title":["Fibrous Dysplasia\/McCune-Albright Syndrome: A Rare, Mosaic Disease of G\u03b1\u200as Activation"],"prefix":"10.1210","volume":"41","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2725-2908","authenticated-orcid":false,"given":"Alison M","family":"Boyce","sequence":"first","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3676-7644","authenticated-orcid":false,"given":"Michael T","family":"Collins","sequence":"additional","affiliation":[{"name":"Skeletal Disorders and Mineral Homeostasis Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2019,11,1]]},"reference":[{"key":"2021121110283345200_CIT0001","article-title":"Fibrous dysplasia\/McCune-Albright syndrome.","volume-title":"GeneReviews\u00ae.","author":"Boyce","year":"1993-2020"},{"issue":"1","key":"2021121110283345200_CIT0002","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1186\/s13023-019-1102-9","article-title":"Best practice management guidelines for fibrous dysplasia\/McCune-Albright syndrome: a consensus statement from the FD\/MAS International 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