2,350 results match your criteria Albright Syndrome

Risk of developing spontaneous MRONJ in fibrous dysplasia patients treated with bisphosphonates: a systematic review of the literature.

Quintessence Int 2022 Jun;53(7):616-623

Objective: The objective of this systematic review was to evaluate the risks of medication-related osteonecrosis of the jaw (MRONJ) in fibrous dysplasia (FD) and McCune-Albright syndrome (MAS) patients treated with bisphosphonates.

Method And Materials: A systematic review of the literature was performed by searching PubMed and Embase databases using MeSH terms (fibrous dysplasia of bone, "fibrous dysplasia, polyostotic," osteonecrosis, jaw, therapeutics, diphosphonates, denosumab, teriparatide, estrogens, hormones, raloxifene hydrochloride, calcitonin, cathepsin K) and non-MeSH terms (antiresorptive therapy, antiresorptives, bisphosphonate, estrogen therapy, hormone therapy, bazedoxifene, cathepsin K inhibitor). Articles were limited to human studies, in English language, in which patients were on antiresorptives for at least 1 year. Read More

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Genetic Alterations in Benign Adrenal Tumors.

Biomedicines 2022 Apr 30;10(5). Epub 2022 Apr 30.

Section on Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

The genetic basis of most types of adrenal adenomas has been elucidated over the past decade, leading to the association of adrenal gland pathologies with specific molecular defects. Various genetic studies have established links between variants affecting the protein kinase A (PKA) signaling pathway and benign cortisol-producing adrenal lesions. Specifically, genetic alterations in , , , , , and have been identified. Read More

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Fahr syndrome discovered in adulthood revealing a rare mutation in pseudohypoparathyroidism type 1a in a Tunisian family.

Clin Case Rep 2022 May 16;10(5):e05849. Epub 2022 May 16.

Department of Endocrinology Faculty of Medicine of Sousse Ibn Jazzar University Hospital Kairouan University of Medicine Kairouan Tunisia.

Pseudohypoparathyroidism (PHP) indicates a rare heterogeneous group of disorders characterized by hypocalcemia, hyperphosphatemia, increased serum concentration of parathyroid hormone (PTH), and insensitivity to the biologic activity of PTH. One of its most common types is PHP-1a. In this report, we present a familial PHP-1a and a novel mutation of the gene. Read More

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Tertiary hyperparathyroidism in patients with pseudohypoparathyroidism type 1a.

Bone Rep 2022 Jun 14;16:101569. Epub 2022 Apr 14.

Department of Pediatrics, Kanazawa Medical University, Kanazawa, Japan.

Pseudohypoparathyroidism type 1a (PHP1a) is a genetic disorder caused by heterozygous loss-of-function mutations on the maternal allele of the gene. Patients with PHP1a predominantly exhibit parathyroid hormone (PTH) resistance and physical features of Albright's hereditary osteodystrophy. We report two unrelated cases with PHP1a who developed tertiary hyperparathyroidism (HPT). Read More

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Polyostotic Fibrous Dysplasia Complicated by Pathological Fracture of Right Femoral Shaft with Nonunion: A Case Report.

Front Surg 2022 12;9:879550. Epub 2022 Apr 12.

Department of Orthopedics, The First Hospital of Jilin University, Changchun, China.

Introduction: Fibrous dysplasia is a benign fibrous bone tumor that accounts for 5% to 10% of benign bone tumors. It can manifest as simple fibrous dysplasia (70%-80%), polyostotic fibrous dysplasia (20%-30%), with approximately the same incidence in men and women. We report a patient with a rare case of multiple fibrous dysplasia combined with proximal femoral shepherd deformity with pathological fracture of the femoral shaft complicated by nonunion. Read More

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[Early manifestation and progressive multicomponent current of McCune-Albright-Braitsev syndrome in a girl 9 years old: a clinical case and literature review].

Probl Endokrinol (Mosk) 2021 12 12;68(2):72-89. Epub 2021 Dec 12.

Surgut State University.

McCune-Albright-Braitsev Syndrome (MAB syndrome) is a very rare multisystem disease manifested by fibrous bone dysplasia, coffee-and-milk colored spots, hyperfunction of various endocrine glands and a number of pathologies of other body systems. We present a description of a clinical case of a severe progressive course of MAB Syndrome in a nine-year-old girl. With this diagnosis, the girl is observation of the girl began when she was 2. Read More

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December 2021

Expression of Beta-Catenin, Cadherins and P-Runx2 in Fibro-Osseous Lesions of the Jaw: Tissue Microarray Study.

Biomolecules 2022 04 16;12(4). Epub 2022 Apr 16.

Department of Clinical and Experimental Medicine, University of Foggia, Viale Pinto 1, 71122 Foggia, Italy.

Fibrous dysplasia (FD) and hyperparathyroidism-jaw tumor syndrome (HPT-JT) are well-characterized benign bone fibro-osseous lesions. The intracellular mechanism leading to excessive deposition of fibrous tissue and alteration of differentiation processes leading to osteomalacia have not yet been fully clarified. Tissue Microarray (TMA)-based immunohistochemical expression of β-catenin, CK-AE1/AE3, Ki-67, cadherins and P-Runx2 were analyzed in archival samples from nine patients affected by FD and HPT-JT and in seven controls, with the aim of elucidating the contribution of these molecules (β-catenin, cadherins and P-Runx2) in the osteoblast differentiation pathway. Read More

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Effects of zoledronic acid therapy in fibrous dysplasia of bone: a single-center experience.

Arch Endocrinol Metab 2022 Apr 11;66(2):247-255. Epub 2022 Apr 11.

Ambulatório de Osteometabolismo, Rede SARAH de Hospitais de Reabilitação, Brasília, DF, Brasil.

Objective: Fibrous dysplasia (FD) is a rare bone disorder that can involve any part of the skeleton, leading to bone pain, deformities, and fractures. Treatment with intravenous bisphosphonates has been used with variable results. Therefore, we aimed to evaluate the effects of zoledronic acid (ZA) therapy in patients with monostotic or polyostotic FD. Read More

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Management Strategies of Fibrous Dysplasia Involving the Paranasal Sinus and the Adjacent Skull Base.

Ear Nose Throat J 2022 Apr 14:1455613221088728. Epub 2022 Apr 14.

Department of Otolaryngology-Head and Neck Surgery, 66375Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, PR China.

Objective: Current management of fibrous dysplasia (FD) involving the paranasal sinuses and the adjacent skull base is currently controversial. This study aims to present our experience in the management strategy of FD that involves the paranasal sinuses and the adjacent skull base.

Methods: Twenty three patients from 2006 to 2019 with monostotic fibrous dysplasia (MFD), polyostotic fibrous dysplasia (PFD), or McCune-Albright syndrome (MAS) involving the paranasal sinuses and the adjacent skull base were retrospectively reviewed. Read More

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Case Report: A Neuro-Ophthalmological Assessment of Vision Loss in a Pediatric Case of McCune-Albright Syndrome.

Front Med (Lausanne) 2022 15;9:857079. Epub 2022 Mar 15.

Department of Anesthesiology, Critical Care and Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.

Patients diagnosed with McCune-Albright Syndrome (MAS) frequently manifest craniofacial fibrous dysplasia (FD). Craniofacial FD can impinge nerve fibers causing visual loss as well as craniofacial pain. Surgical decompression of affected nerves is performed, with variable efficacy, in an attempt to restore function or alleviate symptoms. Read More

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Molecular genetic testing in the management of pituitary disease.

Clin Endocrinol (Oxf) 2022 Mar 29. Epub 2022 Mar 29.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

Objective: Most pituitary tumours occur sporadically without a genetically identifiable germline abnormality, a small but increasing proportion present with a genetic defect that predisposes to pituitary tumour development, either isolated (e.g., aryl hydrocarbon receptor-interacting protein, AIP) or as part of a tumour-predisposing syndrome (e. Read More

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BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.

Int J Gynecol Pathol 2022 May 20. Epub 2022 May 20.

The BRCA1-associated protein 1 (BAP1) gene encodes a tumor suppressor that functions as a ubiquitin hydrolase involved in DNA damage repair. BAP1 germline mutations are associated with increased risk of multiple solid malignancies, including mesothelioma, uveal melanoma, renal cell carcinoma, and high-grade rhabdoid meningiomas. Here, we describe the case of a 52-yr-old woman who experienced multiple abdominal recurrences of an ovarian sex cord-stromal tumor that was originally diagnosed at age 25 and who was found to have a germline mutation in BAP1 and a family history consistent with BAP1 tumor predisposition syndrome. Read More

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Surgical treatment of femoral deformities in polyostotic fibrous dysplasia and McCune-Albright syndrome: A literature review.

World J Orthop 2022 Mar 18;13(3):329-338. Epub 2022 Mar 18.

Department of Clinical Science and Translational Medicine, University of Rome Tor Vergata, Section of Orthopaedics and Traumatology, Tor Vergata Hospital, Rome 00133, Italy.

Background: Surgical correction of femoral deformities in polyostotic fibrous dysplasia (PFD) or McCune-Albright syndrome (MAS), such as coxa vara or shepherd's crook deformity, is a challenge.

Aim: To evaluate the treatment of patients with femoral deformities caused by PDF or MAS treated by osteotomies and stabilized with different methods, by analyzing the most relevant studies on the topic.

Methods: A literature search was performed in Medline database (PubMed). Read More

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Incidental Intercostal Intramuscular Myxoma With Fibrous Dysplasia in a Patient With Mazabraud's and McCune Albright Syndromes.

Cureus 2022 Mar 5;14(3):e22869. Epub 2022 Mar 5.

Radiology, University of Texas (UT) Southwestern Medical School, Dallas, USA.

Intramuscular myxoma is a rare entity that may present as single or multiple lesions in patients with Mazabraud's syndrome and is characterized by intramuscular myxomas with fibrous dysplasia. Though intramuscular myxomas occur in large muscle groups, they can very rarely occur in the chest wall. We present the case of a 41-year-old woman with an incidentally discovered intercostal mass on magnetic resonance cholangiopancreatography (MRCP). Read More

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Neuropathic-like Pain in Fibrous Dysplasia/McCune-Albright Syndrome.

J Clin Endocrinol Metab 2022 05;107(6):e2258-e2266

Botnar Research Centre, Nuffield Department of Orthopaedics, Rheumatology and Musculoskeletal Sciences, University of Oxford, Oxford, UK.

Context: Pain is a major symptom in adults with fibrous dysplasia/McCune-Albright syndrome (FD/MAS) and response to current treatments, including bisphosphonates and standard analgesics (nonsteroidal anti-inflammatory drugs and opiates) is unpredictable. No studies have explored whether the type of pain is variable in this patient group.

Objective: To determine the frequency of neuropathic-like pain in patients with FD/MAS. Read More

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Postoperative thyroid crisis in an 11-year old male with McCune-Albright syndrome and atypical triiodothyronine hyperthyroidism: A case report.

Jingen Hu Caibao Hu

Medicine (Baltimore) 2022 Mar;101(9):e28928

Intensive Care Unit, Zhejiang Hospital, 12 Lingyin Road, Hangzhou 310013, Zhejiang, China.

Rationale: McCune-Albright syndrome (MAS) is a rare heterogeneous clinical disease caused by sporadic, somatic, and postzygotic mutations. Thyroid crisis is even rare in patients with MAS, and we report the clinical outcomes of the first case of a MAS patient with atypical triiodothyronine (T3) hyperthyroidism who developed thyroid crisis after orthopedic surgery.

Patient Concerns: The patient with MAS and atypical T3 hyperthyroidism was an 11-year-old man who had undergone surgery for a right femur fracture and shepherd bending deformity. Read More

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Fibrous Dysplasia of Proximal Femur: A Case Report of Treatment With Single-Stage Valgus Osteotomy With Dynamic Hip Screw and Fibular Strut Graft.

Cureus 2022 Jan 22;14(1):e21496. Epub 2022 Jan 22.

Orthopedics and Traumatology, Maharishi Markandeshwar Institute of Medical Sciences and Research, Ambala, IND.

Fibrous dysplasia is a rare benign intramedullary fibro-osseous lesion characterized by fibro-osseous proliferation with intervening areas of normal or immature bone. It can either be a monostotic or a polyostotic presentation. The etiology of fibrous dysplasia has been linked with a missense mutation in the GNAS1 gene on chromosome 20. Read More

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January 2022

Intramedullary Nailing for Lower Limb Polyostotic Fibrous Dysplasia in Children: A Long-term Follow-up Study.

J Pediatr Orthop 2022 May-Jun 01;42(5):e492-e500

Department of Orthopaedic Surgery, Pediatric Hospital "Bambino Gesù", Palidoro, Rome, Italy.

Background: In children, intramedullary nailing (IN) has been proposed as the best treatment when the femur and tibia are totally affected by fibrous dysplasia (FD). However, in younger children IN must be repeated to maintain stabilization of the affected skeletal segment during growth. We report the long-term results in a cohort of patients in whom more than two-thirds of cases had IN repeated during growth. Read More

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[Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region].

Beijing Da Xue Xue Bao Yi Xue Ban 2022 Feb;54(1):54-61

Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

Objective: To compare the clinicopathologic features and prognosis of the different types of fibrous dysplasia (FD) of cranio-maxillofacial region, so as to provide a new reference for clinicians to treat these patients and make prognostic judgement.

Methods: Clinical records, radiographic data and pathological information of 105 patients diagnosed with FD or McCune-Albright syndrome (MAS) at the Department of Oral Pathology, Peking University Hospital of Stomatology from January 2013 to December 2020 were collected. The patients were divided into 4 groups: monostotic FDs, polyostotic FDs, MAS and a specific type called craniofacial fibrous dysplasia (CFD) limited in the craniofacial region. Read More

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February 2022

A rare pediatric case of McCune-Albright syndrome with acute visual disturbance: Case report.

Medicine (Baltimore) 2022 Feb;101(6):e28815

Department of Pediatrics, Graduate School of Medicine, Gifu University, Yanagido, Gifu, Gifu, Japan.

Rationale: McCune-Albright syndrome (MAS) is a rare disorder characterized by clinical findings, which includes fibrous dysplasia (FD). FD is a benign tumor that leads to increased rates of bone fracture. In some MAS cases with FD, facial deformities, severe pain, and orbital neuropathies are complicated. Read More

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February 2022

Outcomes of medial patellofemoral ligament reconstruction and tibial tubercle osteotomy in syndromic adolescents with patellar dislocation.

J Clin Orthop Trauma 2022 Feb 14;25:101770. Epub 2022 Jan 14.

Department of Orthopaedic Surgery, Nemours/Alfred I. DuPont Hospital for Children, 1600 Rockland Rd., Wilmington, DE, 19803, USA.

Background: Treatment of congenital and habitual dislocation of the patella in syndromic adolescents can be difficult due to accompanying soft-tissue and/or osseous abnormalities often present in the knee. The aim of this study was to report the results of surgical treatment of congenital and habitual patellar dislocation with medial patellofemoral ligament (MPFL) reconstruction and tibial tubercle osteotomy (TTO) in adolescents with an underlying syndrome.

Methods: Syndromic adolescent patients with congenital or habitual patellar dislocation treated with MPFL reconstruction and TTO between 2005 and 2019 with a minimum of one year of follow-up were identified. Read More

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February 2022

Inhibition of IL-6 in the treatment of fibrous dysplasia of bone: The randomized double-blind placebo-controlled TOCIDYS trial.

Bone 2022 04 29;157:116343. Epub 2022 Jan 29.

INSERM UMR 1033, Université Claude Bernard-Lyon 1, Hôpital E Herriot, 69437 Lyon cedex 03, France.

Increased interleukin-6 (IL-6) has been observed in the bone tissue of fibrous dysplasia of bone/McCune-Albright syndrome (FD/MAS) and is possibly involved in the increased bone destruction and bone pain characterizing this disease. The TOCIDYS trial was a randomized, placebo-controlled, 1 year, cross-over, proof-of-concept trial, conducted in patients not responding to bisphosphonates, using monthly intra-venous tocilizumab (a monoclonal antibody to the IL-6 receptor) at 8 mg/kg or a matching placebo for 6 months. Over the following 6 months, they received tocilizumab if they first had placebo, and vice-versa. Read More

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IFN-α blockade during ART-treated SIV infection lowers tissue vDNA, rescues immune function, and improves overall health.

JCI Insight 2022 03 8;7(5). Epub 2022 Mar 8.

Division of Experimental Medicine, University of California, San Francisco, San Francisco, California, USA.

Type I IFNs (TI-IFNs) drive immune effector functions during acute viral infections and regulate cell cycling and systemic metabolism. That said, chronic TI-IFN signaling in the context of HIV infection treated with antiretroviral therapy (ART) also facilitates viral persistence, in part by promoting immunosuppressive responses and CD8+ T cell exhaustion. To determine whether inhibition of IFN-α might provide benefit in the setting of chronic, ART-treated SIV infection of rhesus macaques, we administered an anti-IFN-α antibody followed by an analytical treatment interruption (ATI). Read More

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Cutaneous mosaicism: Special considerations for women.

Int J Womens Dermatol 2021 Dec 27;7(5Part A):539-544. Epub 2021 Oct 27.

Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut.

Genetic mosaicism results from postzygotic mutations during embryogenesis. Cells harboring pathogenic mutations distribute throughout the developing embryo and can cause clinical disease in the tissues they populate. Cutaneous mosaicism is readily visualized since affected tissue often follows predetermined patterns, such as lines of Blaschko. Read More

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December 2021

Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Mol Genet Genomic Med 2022 01 5;10(1):e1861. Epub 2022 Jan 5.

Research Unit of Precision Pathologic Diagnosis in Tumors of the Oral and Maxillofacial Regions, Chinese Academy of Medical Sciences (2019RU034), Beijing, China.

Background: Malignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence.

Methods: We present the detailed clinical course of three cases of osteosarcoma arising from FD of the jaws and explore the genetic aberrations by Sanger sequencing, whole-exome sequencing (WES) and immunohistochemistry (IHC). A literature review of important topics related to this occurrence was also performed. Read More

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January 2022

Treatment of fibrous dysplasia: focus on denosumab.

Expert Opin Biol Ther 2022 Mar 29;22(3):397-405. Epub 2021 Dec 29.

Department of Anesthesiology and Oral Surgery, Faculty of Dental Medicine, University of Medicine and Pharmacy Grigore T Popa, Iasi, Romania.

Introduction: Fibrous dysplasia (FD) is a rare bone disease that is associated with various endocrine conditions, such as McCune Albright syndrome. It manifests as abnormal osteolysis, multiple fractures, or deformities that are reported during disease course. The receptor activator of nuclear factor-kappa B (RANK)/RANK ligand (RANKL) pathway is upregulated in FD and can be targeted with denosumab, a blocking monoclonal antibody. Read More

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Delayed Diagnosis of McCune-Albright Syndrome.

Case Rep Genet 2021 10;2021:2999349. Epub 2021 Dec 10.

Department of Pediatrics and Child Health, Saint Paul's Hospital Millennium Medical College, Addis Ababa, Ethiopia.

Background: McCune-Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, two of the findings are enough to make the diagnosis, but genetic testing can be done if it is available. Read More

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December 2021

Successful treatment with denosumab for pelvic fibrous dysplasia: A case report and review of the literature.

Medicine (Baltimore) 2021 Dec;100(49):e28138

Department of Orthopedic Surgery, Nagoya University Graduate School and School of Medicine, 65 Tsurumai, Showa, Nagoya, Japan.

Rationale: Fibrous dysplasia is a rare disorder that results in fractures, pain, and disability and can affect any bone in the body. The treatment of symptomatic fibrous dysplasia is determined based on the affected bones. Although some lesions are often too extensive for surgical procedures, there are currently no effective or recommended medical treatments available for them. Read More

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December 2021