Year: 2025
Type: article
Study design: Systematic Review
Abstract: McCune-Albright syndrome (MAD) encompasses a variety of pathological clinical phenotypes, due to a nonhereditary activating mutation in the GNAS gene.The location and the extent of the tissues involved with the GNAS mutation define the clinical characteristics of the disease.In the skeleton, the mutation leads to imperfect differentiation of stem cells and formation of abnormal connective tissue instead of healthy bone tissue, leading to pain, functional deformities and fractures.We conducted an online search in the PubMed electronic database using the keywords "Fibrous Dysplasia/Mccune Albright Syndrome".While reviewing the available literature we included case reports, reviews, systematic reviews and clinical trials and published between 1938 and 2024.The search revealed a total of 1729 results.After screening titles and abstracts 1684 publications were rejected due to being irrelevant with the studied topic, leaving 45 studies for the present review.By completing our review, it became clear to us that choosing the optimal treatment when facing these skeletal pathologies remains a great challenge for the orthopedic surgeon.Therefore, it is necessary for more research to be conducted on this topic.
Institution: National and Kapodistrian University of Athens
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $107
OpenAlex ID: W4410894376