Background: McCune-Albright syndrome (MAS) is extremely rare clinically. We here report a case of MAS with severe symptoms that have not been reported previously.
Case Summary: A 10-year-old boy attended our outpatient clinic due to craniofacial malformations found two years ago. He underwent temporal bone computed tomography and digital radiography photography. Based on a literature review combined with the patient's medical history and imaging examination findings, he was diagnosed with multiple fibrous dysplasia of bone. As the clinical symptoms related to MAS in this patient were not obvious, he was only followed up and not given any special treatment.
Conclusion: The unique clinical manifestations in this MAS patient may be related to mutations in the gene.
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http://dx.doi.org/10.12998/wjcc.v11.i28.6817 | DOI Listing |
J Oral Maxillofac Surg
December 2024
Assistant Professor, Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA; Assistant Professor, Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA. Electronic address:
Background: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a genetic disorder, marked by bone lesions, often affecting the craniofacial skeleton. Pain is a prevalent yet heterogeneous symptom reported by patients with craniofacial FD. Effective treatments are currently lacking, posing a significant clinical challenge to patient care.
View Article and Find Full Text PDFBone
December 2024
Department of Otorhinolaryngology - Head and Neck Surgery, Helsinki University Hospital and University of Helsinki, Helsinki, POBox 263, FI-00029 HUS Helsinki, Finland. Electronic address:
Eur J Endocrinol
November 2024
Department of Pediatric Surgery and Urology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 149 Rue de Sèvres, 75015 Paris, France.
Objective: Adreno CorticoTropic Hormone (ACTH)-independent Cushing's syndrome (CS) in children is very rare but potentially fatal. In bilateral nodular hyperplasia, synchronous bilateral adrenalectomy (SBA) represents the definitive treatment to correct hypercortisolism. We aim to report the multidisciplinary management of this rare condition.
View Article and Find Full Text PDFCureus
November 2024
Department of Internal Medicine, Prince Mohammed Bin Abdulaziz Hospital, Medina, SAU.
Fibrous dysplasia (FD) is a rare, benign, and slowly progressive bone disorder that affects one or more bones, where the normal bone is replaced by atypical fibrous connective tissue, making the bone weak, fragile, and more susceptible to fracture. FD can affect a single bone (monostotic FD) or multiple bones (polyostotic FD). The clinical manifestations and progression of FD vary from one individual to the other.
View Article and Find Full Text PDFCureus
November 2024
Internal Medicine, Sir Seewoosagur Ramgoolam National Hospital, Pamplemousses, MUS.
McCune-Albright syndrome (MAS) is a rare genetic disease characterized by a triad of fibrous dysplasia, café-au-lait spots, and endocrine dysfunction. We present a 15-year-old male patient from Mauritius with MAS having multiple café-au-lait macules (CALM) and suffering from polyostotic fibrous dysplasia involving long bones of bilateral lower limbs and craniofacial deformities without endocrine abnormality. This case highlights the long-term management of MAS in a pediatric patient, focusing on both surgical interventions and the use of denosumab to address bone fragility.
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