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Syndromic fibrous dysplasia of the proximal femur.
BMJ Case Rep
January 2025
General Surgery, MS Ramaiah Medical College, Bangalore, Karnataka, India.
A woman in her 50s presented with a 1-year history of left hip pain that increased over the past 2 weeks. The pain began following a low-energy fall. During the 1-year period, she had multiple lesions in the thigh and gluteal region, which were surgically excised.
View Article and Find Full Text PDFBurosumab Therapy in a Paediatric Patient with McCune-Albright Syndrome: A Case Report.
Horm Res Paediatr
June 2023
Department of Paediatric Endocrinology, Alder Hey Children's Hospital, Liverpool, UK.
Introduction: McCune-Albright syndrome is characterized by the triad of fibrous dysplasia, café au lait skin pigmentation, and hyperfunctioning endocrinopathies. It is a sporadic condition caused by a missense mutation in the GNAS locus, located on chromosome 20q13.3, resulting in mosaic activation of the G protein alpha subunit.
View Article and Find Full Text PDFExtent of Extraskeletal Manifestations of Fibrous Dysplasia/McCune-Albright Syndrome in Patients with Mazabraud's Syndrome.
Calcif Tissue Int
March 2022
Department of Orthopaedic Surgery, Centre for Bone Quality, Leiden University Medical Center, Albinusdreef 2, P.O. Box 9600, 2300 RC, Leiden, the Netherlands.
Mazabraud's syndrome (MZB) is a rare condition in which fibrous dysplasia of bone/the McCune-Albright syndrome (FD/MAS) co-exists with intramuscular myxomas. Both FD and the myxomas harbor the GNAS-mutation. Recent studies have shown that extraskeletal, GNAS-related features are associated with a more severe phenotype of FD/MAS.
View Article and Find Full Text PDFClinical Characteristics and Management of Patients With McCune-Albright Syndrome With GH Excess and Precocious Puberty: A Case Series and Literature Review.
Front Endocrinol (Lausanne)
December 2021
Key Laboratory of Endocrinology of National Health Commission, Department of Endocrinology, State Key Laboratory of Complex Severe and Rare Diseases Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Background: McCune-Albright syndrome is a rare disorder characterized by fibrous dysplasia, café au lait skin spots, and hyperfunctioning endocrinopathies. The coexistence of precocious puberty and growth hormone excess in McCune-Albright syndrome is rare. Both conditions can manifest as accelerated growth, and treatments can be more challenging for such patients.
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