Downloads: 5 | Views: 72 | Weekly Hits: ⮙5 | Monthly Hits: ⮙5
Review Papers | Medicine | Argentina | Volume 14 Issue 1, January 2025 | Popularity: 5.9 / 10
Comprehensive Multidisciplinary Insights into Fibrous Dysplasia and McCune - Albright Syndrome
Marialy Galvan, Daniela Herdenes, Marlon Perez, Daiana Pacheco, Julianna Suarez, Paola Cantillo, Daniela Zapa, Daniela Ortiz, Andrea Perez, Alberto Caycedo
Abstract: McCune - Albright syndrome, documented since 1937, is clinically characterized by a classic triad of caf? au lait macules, endocrinopathies and fibrous bone dysplasia, due to somatic activating mutations in the GNAS gene that produces a G?s protein coding responsible for cyclic AMP (cAMP) regulation, resulting in cellular mosaicism, with mutated and normal cells in affected tissues. Due to the multiple actions of the G?s protein, the damage in FD/MAS can be multisystemic, so a multidisciplinary approach is needed for its approach and management, involving pediatricians, dermatologists, radiologists, nuclear medicine, traumatologists, geneticists, endocrinologists and internists, the latter being of utmost importance at the time of transition of these patients from children to adults. The following is a review of the literature, following an extensive literature search on the multidisciplinary approach to FD/MAS.
Keywords: Fibrous Dysplasia, McCune - Albright Syndrome, GNAS Gene, Endocrinopathies
Edition: Volume 14 Issue 1, January 2025
Pages: 323 - 329
DOI: https://www.doi.org/10.21275/SR25106011052
Make Sure to Disable the Pop-Up Blocker of Web Browser