2,282 results match your criteria: "McCune-Albright Syndrome"
Craniofacial fibrous dysplasia: A review of current literature.
Bone
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:
Article Synopsis
- *The systematic literature review from 2010-2023 revealed that management strategies for CFD must be personalized, with asymptomatic patients monitored and those with symptoms possibly needing medical or surgical intervention.
- *The review emphasizes the importance of a multidisciplinary approach to CFD treatment, as well as the need for ongoing monitoring due to potential complications and the risk of malignant transformation.
Synchronous bilateral adrenalectomy for ACTH-independent Cushing's syndrome in children: multidisciplinary management.
Eur J Endocrinol
December 2024
Department of Pediatric Surgery and Urology, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France.
Objective: 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 PDFFibrous Dysplasia of Parietal Bone: A Case Report and Review of Literature.
Cureus
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 PDFMcCune-Albright Syndrome: A Case From Mauritius.
Cureus
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.
View Article and Find Full Text PDFPituitary Acrogigantism: From the Past to the Future.
Front Horm Res
November 2024
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Pituitary acrogigantism is a very rare disease that is caused by chronic growth hormone (GH) axis excess that begins during childhood and adolescence. As such, it represents one of the most severe manifestations of acromegaly. In most cases, acrogigantism is caused by a pituitary adenoma, but hyperplasia can also accompany the adenoma or rarely occur alone.
View Article and Find Full Text PDFSkeletal Phenotype in Mulibrey Nanism, A Monogenic Skeletal Dysplasia With Fibrous Dysplasia.
Clin Genet
November 2024
Children's Hospital, Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Article Synopsis
- - Mulibrey nanism (MUL) is a genetic growth disorder linked to mutations in the TRIM37 gene, leading to growth failure, distinct facial features, heart issues, infertility, and higher cancer risk.
- - A study of 33 MUL patients, aged 4.5-48 years, assessed their long bones and spine through radiographs, revealing significant skeletal abnormalities such as slender and bowed long bones, thick cortices, and tall vertebral bodies.
- - The study confirmed that all patients had skeletal changes, with 58% showing fibrous dysplasia and 52% having a history of fractures, highlighting TRIM37's critical role in skeletal development and maintenance.
Rigid intramedullary nailing of lower limb segments in children and adolescents with metabolic bone disease.
J Pediatr Orthop B
November 2024
Department of Paediatric Orthopaedic and Trauma Surgery, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
Article Synopsis
- * A study conducted at a UK pediatric institution reviewed the medical records of 27 patients who underwent this treatment over 11 years, focusing on their preoperative management, surgical indications, and outcomes.
- * Results showed that all fractures healed successfully, though complications like implant issues and one case of nonunion during limb lengthening were noted, highlighting the effectiveness and safety of rigid intramedullary nailing when carefully planned within a multidisciplinary team.
McCune-Albright Syndrome.
N Engl J Med
November 2024
Vydehi Institute of Medical Sciences and Research Centre, Bangalore, India
"At the end of the tunnel": Endonasal endoscopy for a giant GH secreting pituitary tumor with conchal dysplastic sphenoid in McCune-Albright syndrome.
J Clin Neurosci
December 2024
Dept. of Neurosurgery, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India.
Navigation-assisted occipitocervical fixation and decompression in a patient with polyostotic fibrous dysplasia.
J Craniovertebr Junction Spine
September 2024
Department of Neurosurgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Fibrous dysplasia (FD) is a rare skeletal disorder characterized by the replacement of normal bone with fibrous connective tissue, leading to abnormal bone formation. This case report details the successful treatment of a 61-year-old woman with FD at the craniovertebral junction (CVJ). The patient, who had a history of intracranial meningioma and had already been diagnosed with FD, experienced worsening gait disturbance and muscle weakness following a fall.
View Article and Find Full Text PDFSuccessful surgical management of polyostotic costal fibrous dysplasia-a case report.
Indian J Thorac Cardiovasc Surg
November 2024
Department of Radiodiagnosis, AIIMS Raebareli, Raebareli, India.
Article Synopsis
Fibrous Dysplasia Involving Cranio-Facial Region Treated with Zolendronic Acid: A Single Institutional Experience and Review of Literature.
Indian J Otolaryngol Head Neck Surg
October 2024
Department of Surgical Oncology, The Gujarat Cancer and Research Institute (GCRI), Ahmedabad, India.
Article Synopsis
- Fibrous dysplasia (FD) is a non-cancerous bone condition that can cause bone pain, deformities, and fractures, particularly affecting the cranio-facial region.
- A study at a surgical oncology department followed seven patients with cranio-facial FD over 18.75 months, focusing on the effects of zolendronic acid, a medication used for bone conditions.
- Results showed significant improvements in patients' pain levels and other clinical markers, supporting the use of zolendronic acid as an effective treatment option for cranio-facial fibrous dysplasia.
Diagnosis and management of pituitary adenomas in children and adolescents.
Eur J Endocrinol
September 2024
INSERM-U1185, Paris Sud Paris-Saclay University and AP-HP Division of Endocrinology and Diabetes for Children, Bicêtre Paris Sud Hospital, 64 Gabriel Péri Street, 94270 Le Kremlin Bicêtre, France.
Article Synopsis
- Pituitary adenomas (PA), or Pit-NETS, are rare in children and especially unusual in those under 10, with the majority of research conducted on adult cases.
- This review addresses the unique clinical considerations, diagnosis, and treatment of PA in young patients, highlighting the importance of involving specialized teams that include both pediatric and adult medical experts.
- Pediatric PAs tend to be larger, more aggressive, and often lead to hormonal imbalances that can affect growth and puberty, with the most common type being prolactinomas; genetic testing is recommended for young patients due to potential hereditary mutations linked to these tumors.
Erratum to: McCune-Albright syndrome with acromegaly: A case report with characteristic radiographic features of fibrous dysplasia.
Imaging Sci Dent
September 2024
Department of Oral and Maxillofacial Radiology and Wonkwang Dental Research Institute, College of Dentistry, Wonkwang University, Iksan, Korea.
[This corrects the article on p. 421 in vol. 52, PMID: 36605861.
View Article and Find Full Text PDFMalignant transformation of craniofacial fibrous dysplasia: A clinicopathological, immunohistochemical and molecular analysis of 15 cases in one single institution.
J Stomatol Oral Maxillofac Surg
September 2024
Department of Oral Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China; College of Stomatology, Shanghai Jiao Tong University, National Clinical Research Center for Oral Disease, Shanghai 200011, China; Shanghai Key Laboratory of Stomatology & Shanghai Research Institute of Stomatology, Shanghai 200011, China. Electronic address:
Article Synopsis
- The study investigates the rare occurrence of malignant transformation in craniofacial fibrous dysplasia (FD), analyzing 305 patients over 18 years.
- Out of these, 15 cases (4.9%) involved malignant changes, predominantly affecting females, with ages at diagnosis and transformation averaging 28.87 and 38.53 years, respectively.
- The most common malignancy was osteosarcoma, and overall survival rates were low, with only 33.3% and 20% surviving at 3 and 5 years.
Exploring mutations: GNAS and CDC73 in jaw fibroosseous lesions.
Pathol Res Pract
November 2024
Department of Oral pathology and Microbiology, Centre for dental education and research, All India Institute of Medical Sciences, New Delhi, India. Electronic address:
Article Synopsis
- Benign fibro-osseous lesions, including ossifying fibroma (OF) and fibrous dysplasia (FD), are challenging to differentiate due to similarities in their features, making accurate diagnosis important for treatment.
- This study aimed to evaluate mutations in the GNAS and CDC73 genes in blood and formalin-fixed tumor tissues from OF and FD cases, involving six blood samples and thirteen tumor samples.
- Findings revealed a pathogenic GNAS mutation linked to McCune-Albright syndrome in FD blood samples, but extraction from tumor tissues was unsuccessful, suggesting possible issues with the fixation process affecting DNA quality.
Improvement of Fibrous Dysplasia After Burosumab Therapy in a Pediatric Patient with McCune-Albright Syndrome: A Case Report.
JBJS Case Connect
July 2024
Department of Orthopaedic Surgery, Aichi Children's Health and Medical Center, Obu, Aichi, Japan.
Article Synopsis
- Burosumab is a new medication designed for treating disorders related to hereditary fibroblast growth factor 23 (FGF23), specifically hypophosphatemia.
- An 11-year-old girl with McCune-Albright syndrome suffered from low phosphate levels and multiple bone lesions due to excess FGF23, but her condition improved significantly with burosumab treatment.
- This case marks the first instance of burosumab improving bone lesions in a patient with McCune-Albright syndrome, highlighting its potential therapeutic benefits.
Monostotic fibrous dysplasia of jaw bones: a case series.
BMC Oral Health
September 2024
Department of Oral & Maxillofacial Pathology and Microbiology, Sharad Pawar Dental College & Hospital, Datta Meghe Institute of Higher Education and Research, Sawangi (Meghe), Wardha, 442004, Maharashtra, India.
Article Synopsis
- Fibrous dysplasia (FD) is a benign condition affecting bone development and can complicate the diagnosis of jaw lesions due to the need for various clinical assessments.
- A study analyzed five cases of monostotic FD in maxillofacial bones over a decade, finding equal gender representation and primarily involving the maxilla.
- The condition can cause facial disfigurement, making early detection important, and genetic analysis may enhance understanding of its occurrence in specific populations.
Beware of the Iceberg Phenomenon: A Case Report of Chest Wall Fibrous Dysplasia.
Diagnostics (Basel)
August 2024
Department of Cardiothoracic Surgery, University Medical Center Groningen, University of Groningen, 9700 RB Groningen, The Netherlands.
Article Synopsis
- Thoracic fibrous dysplasia (FD) is a benign tumor in the chest wall that originates from bone marrow, representing 30-50% of benign bone neoplasms in this area.
- A case is presented where a massive intrathoracic polyostotic FD from the rib was diagnosed after it caused significant symptoms, despite its extrathoracic portion remaining stable for decades.
- The tumor was surgically removed using a hemi-clamshell approach, and the importance of regular follow-up imaging post-diagnosis is emphasized to ensure timely intervention and prevent complications.
[Fibrous dysplasia].
Orthopadie (Heidelb)
October 2024
Universitätsklinikum Düsseldorf, Düsseldorf, Deutschland.
Article Synopsis
- * Common issues associated with fibrous dysplasia include bone pain, deformities, and pathological fractures; it can also occur with other conditions like McCune-Albright syndrome, which includes skin spots and hormonal disorders.
- * Diagnosis typically involves imaging techniques revealing a "cloudy" bone appearance, while treatment focuses on managing symptoms, stabilizing bones, and preventing fractures, although there is no cure.
Polyostotic Fibrous Dysplasia: A Case Report.
Cureus
July 2024
Department of Radiology, Saveetha Medical College and Hospital, Saveetha Institute of Medical and Technical Sciences, Saveetha University, Chennai, IND.
Article Synopsis
- Polyostotic fibrous dysplasia (PFD) is a rare, noncancerous bone disorder that results in abnormal bone formation, leading to deformities and functional issues.
- A 32-year-old man was diagnosed with leontiasis ossea, a severe form of craniofacial fibrous dysplasia, after presenting with distinct facial abnormalities confirmed through imaging and tissue analysis.
- The case highlights the challenges in diagnosing and treating PFD, emphasizing the importance of teamwork among healthcare professionals for effective patient management.
Undifferentiated sarcoma arising from fibrous dysplasia in a young adult.
Orthopadie (Heidelb)
September 2024
Department of Oncology, Santa Fe Fundación Santa Fe de Bogotá, Bogotá, Colombia, Calle 119 No. 7-03.
Fibrous dysplasia (FD) is a skeletal disorder characterized by the replacement of normal bone by fibrous tissue. Malignant transformation of FD is extremely rare and has been reported in both monostotic and polyostotic forms of FD. The most frequently reported malignant transformation is osteosarcoma.
View Article and Find Full Text PDFMolecular confirmation that fibrocartilaginous dysplasia is a variant of fibrous dysplasia.
J Clin Pathol
August 2024
Department of Pathology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China
Article Synopsis
- The study investigates fibrocartilaginous dysplasia (FCD), a subvariant of fibrous dysplasia (FD), focusing on its clinical, pathological, and genetic characteristics.
- It included a cohort of 24 patients, confirming FCD diagnoses through various methods and identifying genetic mutations using Sanger sequencing.
- Findings revealed specific radiographic and histological features, alongside shared mutations in both fibro-osseous and cartilaginous components, confirming FCD as a variant of FD.
Dissecting the heterogeneity of craniofacial lesions in patients with fibrous dysplasia/McCune-Albright Syndrome.
Int J Oral Maxillofac Surg
December 2024
Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Department of Psychiatry, McLean Hospital, Harvard Medical School, Belmont, MA, USA. Electronic address:
Article Synopsis
- Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS) often affects the craniofacial skeleton, requiring diverse imaging techniques (like X-rays, CT, MRI, and F-NaF PET) to assess the lesions.
- A study involving 15 patients with 35 lesions used a k-means clustering algorithm to classify these based on their imaging features.
- The findings indicate three distinct types of lesions, providing a basis for future research into their progression, treatment options, and associated symptoms, ultimately improving patient management.
[Analysis of clinical features of 193 Chinese patients with McCune-Albright syndrome through a literature review].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
July 2024
Department of Pediatrics, the First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China.
Article Synopsis
- * The patient group consisted of 42 males and 151 females, with females presenting symptoms at a younger age; common issues included fibrous dysplasia in males and peripheral precocious puberty in females.
- * The findings revealed high rates of endocrine hyperfunction and café-au-Lait spots, along with the need for cranial nerve evaluation in those with elevated growth hormone levels.