738 results match your criteria Fibrodysplasia Ossificans


99mTc-MDP Bone Scan Findings in Fibrodysplasia Ossificans Progressiva.

Clin Nucl Med 2020 Jun 25. Epub 2020 Jun 25.

From the Department of Nuclear Medicine and PET/CT Mahajan Imaging Centre, Sir Ganga Ram Hospital, New Delhi, India.

Fibrodysplasia ossificans progressiva is a rare debilitating, connective tissue disease characterized by progressive extraosseous ossification with abnormal great toes. Clinical (hallux valgus), radiological, and classical bone scan findings help to reach diagnosis and prevent patient from unnecessary surgical interventions for fibrodysplasia ossificans progressiva lesions and radiotherapy cycles. Here we present a case where a child presented with multiple swellings over the body and hallux valgus, and further bone scan findings helped to reach the diagnosis. Read More

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http://dx.doi.org/10.1097/RLU.0000000000003186DOI Listing

Pharmacokinetics and Pharmacodynamics of Garetosmab (Anti-Activin A): Results From a First-in-Human Phase 1 Study.

J Clin Pharmacol 2020 Jun 18. Epub 2020 Jun 18.

Regeneron Pharmaceuticals, Inc., Tarrytown, New York, USA.

We describe outcomes from the first-in-human study of garetosmab (a fully human monoclonal antibody that inhibits activin A) under development for the treatment of fibrodysplasia ossificans progressiva (FOP). In a double-blind, placebo-controlled phase 1 study, 40 healthy women of nonchildbearing potential were randomized to receive a single dose of intravenous garetosmab 0.3, 1, 3, or 10 mg/kg; subcutaneous garetosmab 300 mg; or placebo. Read More

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http://dx.doi.org/10.1002/jcph.1638DOI Listing

Activin A does not drive post-traumatic heterotopic ossification.

Bone 2020 Jun 15:115473. Epub 2020 Jun 15.

Department of Surgery, University of Michigan, Ann Arbor, MI, United States of America; Division of Plastic Surgery, Department of Surgery, University of Michigan Health System, 1500 E Medical Center Drive, SPC 5340, Ann Arbor, MI 48109-5340, United States of America. Electronic address:

Heterotopic ossification (HO), the formation of ectopic bone in soft tissues, has been extensively studied in its two primary forms: post-traumatic HO (tHO) typically found in patients who have experienced musculoskeletal or neurogenic injury and in fibrodysplasia ossificans progressiva (FOP), where it is genetically driven. Given that in both diseases HO arises via endochondral ossification, the molecular mechanisms behind both diseases have been postulated to be manifestations of similar pathways including those activated by BMP/TGFβ superfamily ligands. A significant step towards understanding the molecular mechanism by which HO arises in FOP was the discovery that FOP causing ACVR1 variants trigger HO in response to activin A, a ligand that does not activate signaling from wild type ACVR1, and that is not inherently osteogenic in wild type settings. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115473DOI Listing

Diagnostic Value of Magnetic Resonance Imaging in Fibrodysplasia Ossificans Progressiva.

JBMR Plus 2020 Jun 28;4(6):e10363. Epub 2020 Apr 28.

Department of Internal Medicine section Endocrinology, Amsterdam Bone Center Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Movement Sciences Amsterdam The Netherlands.

Using [F] Sodium Fuoride (NaF) Positron Emission Tomography (PET) it is not only possible to identify the ossifying potency of a flare-up, but also to identify an asymptomatic chronic stage of fibrodysplasia ossificans progressiva (FOP). The purpose of this study was to investigate the diagnostic role of a more widely available imaging modality, Magnetic Resonance Imaging (MRI), which is of special interest for studies in pediatric FOP patients. MRI and [F]NaF PET/CT images at time of inclusion and subsequent follow-up CT scans of 4 patients were analyzed retrospectively. Read More

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http://dx.doi.org/10.1002/jbm4.10363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285757PMC

Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors.

Bone 2020 Jun 6;138:115472. Epub 2020 Jun 6.

Department of Cell and Chemical Biology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, the Netherlands; Department of Medical Biochemistry and Microbiology, Science for Life Laboratory, Box 582, Uppsala University, SE-751 23 Uppsala, Sweden; Oncode Institute, Department of Cell and Chemical Biology, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, the Netherlands. Electronic address:

Bone morphogenetic proteins (BMPs) are secreted cytokines that control the fate and function of many different cell types. They exert their cellular responses via heteromeric complexes of specific BMP type I and type II serine/threonine kinase receptors, e.g. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115472DOI Listing

Pharmacotherapy in Rare Skeletal Diseases.

Handb Exp Pharmacol 2020 Jun 10. Epub 2020 Jun 10.

Faculty of Medicine, University of Cologne, Cologne, Germany.

New therapeutic approaches have been established in the field of rare skeletal diseases (e.g., for osteogenesis imperfecta, achondroplasia, hypophosphatemic rickets, hypophosphatasia, and fibrodysplasia ossificans progressiva). Read More

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http://dx.doi.org/10.1007/164_2019_305DOI Listing

Activin A forms a non-signaling complex with ACVR1 and type II Activin/BMP receptors via its finger 2 tip loop.

Elife 2020 Jun 9;9. Epub 2020 Jun 9.

Regeneron Pharmaceuticals, Tarrytown, United States.

Activin A functions in BMP signaling in two ways: it either engages ACVR1B to activate Smad2/3 signaling or binds ACVR1 to form a non-signaling complex (NSC). Although the former property has been studied extensively, the roles of the NSC remain unexplored. The genetic disorder fibrodysplasia ossificans progressiva (FOP) provides a unique window into ACVR1/Activin A signaling because in that disease Activin can either signal through FOP-mutant ACVR1 or form NSCs with wild-type ACVR1. Read More

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http://dx.doi.org/10.7554/eLife.54582DOI Listing

Design of primers for direct sequencing of nine coding exons in the human ACVR1 gene.

Bone 2020 Jun 5;138:115469. Epub 2020 Jun 5.

Project of Clinical and Basic Research for FOP, Saitama Medical University, Saitama, Japan; Division of Biomedical Sciences, Research Center for Genomic Medicine, Saitama Medical University, Saitama, Japan. Electronic address:

The human ACVR1 gene encodes a transmembrane protein consisting of 509 amino acids called activin A receptor, type I (ACVR1) or activin receptor-like kinase 2 (ALK2) and has nine coding exons. The ALK2 protein functions as a signaling receptor for ligands of the transforming growth factor-β family. In the human ACVR1 gene, approximately 20 types of heterozygotic mutations in the coding exons have been associated with congenital disorders and somatic cancer, such as fibrodysplasia ossificans progressiva (FOP), diffuse intrinsic pontine glioma, diffuse idiopathic skeletal hyperostosis and some congenital heart disorders. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115469DOI Listing

Structural Basis of Activin Receptor-Like Kinase 2 (R206H) Inhibition by Bis-heteroaryl Pyrazole-Based Inhibitors for the Treatment of Fibrodysplasia Ossificans Progressiva Identified by the Integration of Ligand-Based and Structure-Based Drug Design Approaches.

ACS Omega 2020 May 12;5(20):11411-11423. Epub 2020 May 12.

Drug Discovery Computational Chemistry Platform Unit, RIKEN Center for Biosystems Dynamics Research, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama 230-0045, Japan.

Fibrodysplasia ossificans progressiva (FOP) is a rare but severe genetic disorder in which acute inflammation elicits progressive heterotopic ossification in the muscles, tendons, and ligaments. Classic FOP is caused by the R206H mutation in ALK2/ACVR1. While several activin receptor-like kinase 2 (ALK2) inhibitors were found to be efficacious in animal models of FOP, most of the ALK2 (R206H) inhibitors lacked sufficient oral bioavailability for efficacy. Read More

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http://dx.doi.org/10.1021/acsomega.9b04245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7254505PMC

Prophylactic treatment of rapamycin ameliorates naturally developing and episode -induced heterotopic ossification in mice expressing human mutant ACVR1.

Orphanet J Rare Dis 2020 May 24;15(1):122. Epub 2020 May 24.

Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare autosomal-dominant disease characterized by heterotopic ossification (HO) in soft tissues and caused by a mutation of the ACVR1A/ALK2 gene. Activin-A is a key molecule for initiating the process of HO via the activation of mTOR, while rapamycin, an mTOR inhibitor, effectively inhibits the Activin-A-induced HO. However, few reports have verified the effect of rapamycin on FOP in clinical perspectives. Read More

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http://dx.doi.org/10.1186/s13023-020-01406-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7245788PMC

Fibrodysplasia ossificans progressiva-a rare disease with distinctive features yet still a diagnostic challenge: A case report.

Medicine (Baltimore) 2020 Apr;99(17):e19933

Division of Arthritis and Rheumatic Diseases, Oregon Health & Science University and VA Portland Health Care System, Portland, OR.

Rationale: Fibrodysplasia ossificans progressiva (FOP) is rare genetic disease featuring progressive heterotopic ossification of soft tissues of the musculoskeletal system which leads to severe disability and premature death. Recognition of this disease is important since invasive diagnostic procedures can promote disease progression. However, despite its distinctive clinical manifestations, diagnosis can be difficult because of its rarity PATIENT CONCERNS:: A 20-year-old woman was referred to rheumatology clinic for management of "ankylosing spondylitis". Read More

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http://dx.doi.org/10.1097/MD.0000000000019933DOI Listing

Surgical management of bilateral hip fractures in a patient with fibrodysplasia ossificans progressiva treated with the RAR-γ agonist palovarotene: a case report.

BMC Musculoskelet Disord 2020 Apr 3;21(1):204. Epub 2020 Apr 3.

Division of Endocrinology and Metabolism, Department of Medicine, the Institute for Human Genetics; and the Program in Craniofacial Biology - University of California, San Francisco, 513 Parnassus Ave., HSE901, San Francisco, CA, 94143-0794, USA.

Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare disorder marked by painful, recurrent flare-ups and heterotopic ossification (HO) in soft and connective tissues, which can be idiopathic or provoked by trauma, illness, inflammation, or surgery. There are currently no effective treatments for FOP, or for patients with FOP who must undergo surgery. Palovarotene, an investigational retinoic acid receptor-γ agonist, offers a potential avenue to prevent HO formation. Read More

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http://dx.doi.org/10.1186/s12891-020-03240-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7126417PMC

Fibrodysplasia Ossificans Progressiva: Turning into Stone!

Indian J Pediatr 2020 Mar 14. Epub 2020 Mar 14.

Department of Endocrinology Diabetes and Metabolism, Narayana Hrudhalaya Hospitals, Bommasandra, Bangalore, 560099, India.

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http://dx.doi.org/10.1007/s12098-020-03247-6DOI Listing

New perspectives on the treatment of skeletal dysplasia.

Ther Adv Endocrinol Metab 2020 3;11:2042018820904016. Epub 2020 Mar 3.

Clinical Genetics, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, IMAGINE Institute, Necker Enfants Malades Hospital, 149 rue de sevres, Paris, 75015, France.

The last few decades have been marked by the identification of numerous genes implicated in genetic disorders, helping in the elucidation of the underlying pathophysiology of these conditions. This has allowed new therapeutic approaches to emerge such as cellular therapy, gene therapy, or pharmacological therapy for various conditions. Skeletal dysplasias are good models to illustrate these scientific advances. Read More

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http://dx.doi.org/10.1177/2042018820904016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054735PMC

Serum osteocalcin level is associated with the mortality in Chinese patients with Fibrodysplasia ossificans progressiva aged ≤18 years at diagnosis.

BMC Musculoskelet Disord 2020 Mar 6;21(1):152. Epub 2020 Mar 6.

Department of Endocrinology and Metabolism, Tongji Hospital of Tongji University, Tongji University School of Medicine, No. 389, Xincun Road, Shanghai, 200065, China.

Background: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder characterized by extraskeletal heterotopic ossification. It is well recognized that FOP can lead to a devastating condition of disability. However, the mortality rate of FOP patients in China and risk factors for mortality are still largely unclear. Read More

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http://dx.doi.org/10.1186/s12891-020-3170-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060591PMC

Methods for the reliable induction of heterotopic ossification in the conditional mouse.

J Musculoskelet Neuronal Interact 2020 Mar;20(1):149-159

Vanderbilt Center for Bone Biology.

Objectives: Conditional () mice have previously been used as a model of heterotopic ossification (HO). However, HO formation in this model can be highly variable, and it is unclear which methods reliably induce HO. Hence, these studies report validated methods for reproducibly inducing HO in mice. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104591PMC

Radiotherapy in Fibrodysplasia Ossificans Progressiva: A Case Report and Systematic Review of the Literature.

Front Endocrinol (Lausanne) 2020 12;11. Epub 2020 Feb 12.

Department of Internal Medicine Section Endocrinology, Amsterdam Movement Sciences, Amsterdam Bone Centre, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, Netherlands.

Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant disease, characterized by the formation of heterotopic ossification (HO) in muscles, ligaments, and tendons. Flare-ups, an inflammatory process that often precedes the formation of HO, can occur spontaneously, but trauma is also a common trigger. It is not known whether radiotherapy, especially in higher doses, might cause sufficient trauma or inflammation to trigger a flare-up and subsequent HO in FOP patients. Read More

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http://dx.doi.org/10.3389/fendo.2020.00006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028822PMC
February 2020

ALK2: A Therapeutic Target for Fibrodysplasia Ossificans Progressiva and Diffuse Intrinsic Pontine Glioma.

Chem Pharm Bull (Tokyo) 2020 ;68(3):194-200

Drug Discovery Structural Biology Platform Unit, RIKEN Biosystems Dynamics Research.

Fibrodysplasia ossificans progressiva (FOP) and diffuse intrinsic pontine glioma (DIPG) are diseases that typically manifest in childhood and are associated with severely reduced life expectancy. However, there are currently no effective therapies for these diseases, which remain incurable. Activin receptor-like kinase-2 (ALK2), encoded by the ACVR1 gene, is a bone morphogenetic protein (BMP) type-I receptor subtype that plays an important physiological role in the development of bones, muscles, brain, and other organs. Read More

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http://dx.doi.org/10.1248/cpb.c19-00882DOI Listing

Role of Signal Transduction Pathways and Transcription Factors in Cartilage and Joint Diseases.

Int J Mol Sci 2020 Feb 17;21(4). Epub 2020 Feb 17.

Department of Molecular & Cellular Biochemistry, Osaka University Graduate School of Dentistry1-8 Yamadaoka, Suita, Osaka 565-0871, Japan.

Osteoarthritis and rheumatoid arthritis are common cartilage and joint diseases that globally affect more than 200 million and 20 million people, respectively. Several transcription factors have been implicated in the onset and progression of osteoarthritis, including Runx2, C/EBPβ, HIF2α, Sox4, and Sox11. Interleukin-1 β (IL-1β) leads to osteoarthritis through NF-ĸB, IκBζ, and the Zn-ZIP8-MTF1 axis. Read More

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http://dx.doi.org/10.3390/ijms21041340DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7072930PMC
February 2020

Self-reported baseline phenotypes from the International Fibrodysplasia Ossificans Progressiva (FOP) Association Global Registry.

Bone 2020 May 13;134:115274. Epub 2020 Feb 13.

Departments of Orthopaedic Surgery and Medicine, The Center for Research in FOP & Related Disorders, The Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, United States. Electronic address:

A global, patient-reported registry has been established to characterize the course of disease and track clinical outcomes in patients with fibrodysplasia ossificans progressiva (FOP), an ultra-rare genetic condition of progressive heterotopic ossification (HO) that results in ankylosis of joints and renders most affected individuals immobile by the second decade of life. Here, we present baseline phenotypes on 299 patients (median age 21 years; range 0.1 to 78 years) from 54 countries based on aggregate data from the International FOP Association (IFOPA) Global Registry (the "FOP Registry"). Read More

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http://dx.doi.org/10.1016/j.bone.2020.115274DOI Listing

Fibrodysplasia ossificans progressiva as a form of pseudodystonia.

Parkinsonism Relat Disord 2020 Jan 31. Epub 2020 Jan 31.

Neurology Department, St Adalbert Hospital Copernicus PL, Gdansk, Poland; Department of Neurological and Psychiatric Nursing, Faculty of Health Sciences with Institute of Maritime and Tropical Medicine, Medical University of Gdansk, Gdansk, Poland.

Our aim was to add to the list of pseudodystonia published by Berlot et al. a relatively rare, but possible form, describing fibrodysplasia ossificans progressiva (FOP) as an entity that can mimic dystonia (accompanied with video). We also provide the first report on the botulinum toxin type A (BoNT/A) therapy in FOP. Read More

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http://dx.doi.org/10.1016/j.parkreldis.2020.01.013DOI Listing
January 2020

Reply to J. Dulski and J. Slawek's "Fibrodysplasia ossificans progressiva as a form of pseudodystonia".

Parkinsonism Relat Disord 2020 02 28;71:49-50. Epub 2020 Jan 28.

Department of Neurology, University Medical Centre Ljubljana, Zaloška 2, 1000 Ljubljana, Slovenia. Electronic address:

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http://dx.doi.org/10.1016/j.parkreldis.2020.01.016DOI Listing
February 2020

Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome.

Front Endocrinol (Lausanne) 2019 10;10:908. Epub 2020 Jan 10.

Department of Orthopaedic Surgery, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.

Segmental progeroid syndromes are commonly represented by genetic conditions which recapitulate aspects of physiological aging by similar, disparate, or unknown mechanisms. Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disease caused by mutations in the gene for ACVR1/ALK2 encoding Activin A receptor type I/Activin-like kinase 2, a bone morphogenetic protein (BMP) type I receptor, and results in the formation of extra-skeletal ossification and a constellation of others features, many of which resemble accelerated aging. The median estimated lifespan of individuals with FOP is approximately 56 years of age. Read More

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http://dx.doi.org/10.3389/fendo.2019.00908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6966325PMC
January 2020

History of etidronate.

Bone 2020 May 3;134:115222. Epub 2020 Jan 3.

Procter & Gamble Pharmaceuticals, 8700 Mason Montgomery Road, Mason, OH 45040, USA. Electronic address:

Etidronate is a non-nitrogen-containing bisphosphonate. Because it binds with calcium and inhibits crystal formation and dissolution, it was considered by Procter & Gamble as an additive to toothpaste (to prevent build-up of tartar) and detergent (to bind calcium and increase sudsing in "hard" water). The first clinical use (1968) was for fibrodysplasia ossificans progressiva. Read More

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http://dx.doi.org/10.1016/j.bone.2020.115222DOI Listing

The evolving therapeutic landscape of genetic skeletal disorders.

Orphanet J Rare Dis 2019 12 30;14(1):300. Epub 2019 Dec 30.

West Midlands Clinical Genetics Unit, Birmingham Women's and Children's NHS FT and Birmingham Health Partners, Birmingham, UK.

Background: Rare bone diseases account for 5% of all birth defects yet very few have personalised treatments. Developments in genetic diagnosis, molecular techniques and treatment technologies however, are leading to unparalleled therapeutic advance. This review explores the evolving therapeutic landscape of genetic skeletal disorders (GSDs); the key conditions and there key differentials. Read More

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http://dx.doi.org/10.1186/s13023-019-1222-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6937740PMC
December 2019
3.358 Impact Factor

Early stage fibrodysplasia ossificans progressiva: A case report.

Radiol Case Rep 2020 Mar 13;15(3):167-173. Epub 2019 Dec 13.

Department of Orthopaedic and Traumatology Cipto Mangunkusumo General Hospital, Faculty of Medicine Universitas Indonesia, Jl. Diponegoro No. 71, Jakarta Pusat, Jakarta, Indonesia.

Fibrodysplasia ossificans progressiva is a very rare autosomal dominant genetic connective tissue disease with a progressive ectopic ossification of muscle (intramuscular) or perimuscular connective tissue such as tendons or joint capsules. The osseous masses produced will form bridges that abnormally connect sections of the skeleton, causing disfiguration and normal motor function inhibition. We reported a 5-year-old girl with multiple hard nodules on the back region which initially present as a painful soft mass on the posterior neck region. Read More

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http://dx.doi.org/10.1016/j.radcr.2019.11.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6921199PMC

Is fibrodysplasia ossificans progressiva an interleukin-1 driven auto-inflammatory syndrome?

Pediatr Rheumatol Online J 2019 Dec 21;17(1):84. Epub 2019 Dec 21.

Pediatric Rheumatology Unit, Department of Pediatrics, Meir Medical Center, 59 Tchernichovsky St., 4428164, Kfar Saba, Israel.

Background: Fibrodysplasia ossificans progressiva (FOP) is the most catastrophic form of heterotopic ossification, due to ongoing intracellular signaling through the bone morphogenic protein pathway. The paroxysmal appearance of inflammatory lumps and elevated inflammatory markers during flares, suggest that FOP is an auto-inflammatory disease. Based on evidence, demonstrating a role for interleukin-1β (IL-1β) in other forms of heterotopic ossification, we hypothesized that treating FOP patients with anti-IL-1 agents could help lower the rate of FOP paroxysms and/or limit the symptoms and residual lesions. Read More

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http://dx.doi.org/10.1186/s12969-019-0386-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925442PMC
December 2019

Successful Airway and Anesthesia Management Using a High-Flow Nasal Cannula in a Fibrodysplasia Ossificans Progressiva Patient During General Anesthesia: A Case Report.

A A Pract 2020 Feb;14(3):75-78

From the Department of Anesthesiology, Tokyo Dental College, Ichikawa General Hospital, Ichikawa, Japan.

Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disorder causing neck stiffness, ankylosis of temporomandibular joints, and severe restrictive respiratory dysfunction due to progressive heterotopic ossification of the connective tissue. Herein, we report a case of successful airway and anesthesia management using a high-flow nasal cannula (HFNC) in a 51-year-old man with FOP undergoing partial bone resection of the right greater trochanter of the femur. Although general anesthesia with awake fiberoptic nasotracheal intubation has been described as the gold standard, HFNC may yield another potentially viable option for patients undergoing a surgical procedure that does not involve the airway. Read More

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http://dx.doi.org/10.1213/XAA.0000000000001152DOI Listing
February 2020

Fibrodysplasia ossificans progressiva (stone man syndrome): a case report.

J Med Case Rep 2019 Dec 1;13(1):364. Epub 2019 Dec 1.

Department of Trauma and Orthopedic, Rashid Hospital, Dubai, 4545, United Arab Emirates.

Background: Fibrodysplasia ossificans progressiva is an ultrarare autosomal dominant disorder and disabling syndrome characterized by postnatal progressive heterotopic ossification of the connective tissue and congenital malformation of the big toes. Fibrodysplasia ossificans progressiva has worldwide prevalence of about 1 in 2 million births. Nearly 90% of patients with fibrodysplasia ossificans progressiva are misdiagnosed and mismanaged and thus undergo unnecessarily interventions. Read More

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http://dx.doi.org/10.1186/s13256-019-2297-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885308PMC
December 2019

Fibrodysplasia ossificans progressiva: Review and research activities in Japan.

Pediatr Int 2020 Jan;62(1):3-13

Department of Rehabilitation, Teikyo University, Tokyo, Japan.

Fibrodysplasia ossificans progressiva (FOP) is a rare genetic skeletal disorder manifesting progressive heterotopic ossification (HO) and congenital malformation of the great toes. Since 2007, we have conducted research on FOP. Here, we review the findings on FOP published to date, including the results of our research. Read More

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http://dx.doi.org/10.1111/ped.14065DOI Listing
January 2020

Development of Macrocycle Kinase Inhibitors for ALK2 Using Fibrodysplasia Ossificans Progressiva-Derived Endothelial Cells.

JBMR Plus 2019 Nov 7;3(11):e10230. Epub 2019 Oct 7.

Department of Cell and Chemical Biology, Oncode Institute Leiden University Medical Center Leiden The Netherlands.

Fibrodysplasia ossificans progressiva (FOP) is an extremely rare congenital form of heterotopic ossification (HO), caused by heterozygous mutations in the activin A type I receptor (ACVR1), that encodes the bone morphogenetic protein (BMP) type I receptor ALK2. These mutations enable ALK2 to induce downstream signaling in response to activins, thereby turning them into bone-inducing agents. To date, there is no cure for FOP. Read More

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http://dx.doi.org/10.1002/jbm4.10230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874179PMC
November 2019
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Fibrodysplasia Ossificans Progressiva and Its Implications in Podiatric Medicine: A Case Report.

J Am Podiatr Med Assoc 2019 Jul;109(4):317-321

The purpose of this case report is to show the clinical presentation of a rare genetic disorder, called fibrodysplasia ossificans progressiva, on the development of the foot in a newborn. Shortened great toes and malformations of the first metatarsals are present in all affected individuals at birth. Irreversible heterotopic endochondral ossification of soft tissues occurs in the first decade of life, often resulting in permanent immobility by the third decade of life. Read More

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http://dx.doi.org/10.7547/18-021DOI Listing

Generation of Fibrodysplasia ossificans progressiva and control integration free iPSC lines from periodontal ligament fibroblasts.

Stem Cell Res 2019 12 5;41:101639. Epub 2019 Nov 5.

Department of Cell and Chemical Biology, Oncode Institute, Leiden University Medical Center, Leiden, the Netherlands.

Fibrodysplasia ossificans progressiva (FOP) is a very rare devastating heterotopic ossification disorder, classically caused by a heterozygous single point mutation (c.617G>A) in the ACVR1gene, encoding the Bone morphogenetic protein (BMP) type I receptor, also termed activin receptor-like kinase (ALK)2. FOP patients develop heterotopic ossification episodically in response to inflammatory insults, thereby compromising tissue sampling and the development of in vitro surrogate models for FOP. Read More

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http://dx.doi.org/10.1016/j.scr.2019.101639DOI Listing
December 2019

Inflammation in Fibrodysplasia Ossificans Progressiva and Other Forms of Heterotopic Ossification.

Curr Osteoporos Rep 2019 12;17(6):387-394

Division of Endocrinology and Metabolism, University of California, 513 Parnassus Ave., HSE901, San Francisco, CA, 94143-0794, USA.

Purpose Of Review: Heterotopic ossification (HO) is associated with inflammation. The goal of this review is to examine recent findings on the roles of inflammation and the immune system in HO. We examine how inflammation changes in fibrodysplasia ossificans progressiva, in traumatic HO, and in other clinical conditions of HO. Read More

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http://dx.doi.org/10.1007/s11914-019-00541-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7271746PMC
December 2019

Fibrodysplasia ossificans progressiva: lessons learned from a rare disease.

Curr Opin Pediatr 2019 12;31(6):716-722

Department of Medical Genetics, Marmara University School of Medicine, Istanbul, Turkey.

Purpose Of Review: Fibrodysplasia ossificans progressiva (FOP) is an extremely rare and severely disabling autosomal dominant disease that is yet to be clearly understood. The purpose of this review is to present recent literature on pathophysiology, clinical features, diagnosis and treatment of FOP.

Recent Findings: FOP is characterized by congenital great toe deformity and progressive heterotopic ossifications in connective tissue. Read More

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http://dx.doi.org/10.1097/MOP.0000000000000802DOI Listing
December 2019

ACVR1 Function in Health and Disease.

Cells 2019 10 31;8(11). Epub 2019 Oct 31.

Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, L'Hospitalet de Llobregat, 08907 Barcelona, Spain.

encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system development and regulation. Moreover, has been extensively studied for its causal role in fibrodysplasia ossificans progressiva (FOP), a rare genetic disorder characterised by progressive heterotopic ossification. Read More

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http://dx.doi.org/10.3390/cells8111366DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6912516PMC
October 2019

Short-wave infrared light imaging measures tissue moisture and distinguishes superficial from deep burns.

Wound Repair Regen 2020 Mar 4;28(2):185-193. Epub 2019 Dec 4.

Department of Surgery, University of Michigan, Ann Arbor, Michigan.

Existing clinical approaches and tools to measure burn tissue destruction are limited resulting in misdiagnosis of injury depth in over 40% of cases. Thus, our objective in this study was to characterize the ability of short-wave infrared (SWIR) imaging to detect moisture levels as a surrogate for tissue viability with resolution to differentiate between burns of various depths. To accomplish our aim, we constructed an imaging system consisting of a broad-band Tungsten light source; 1,200-, 1,650-, 1,940-, and 2,250-nm wavelength filters; and a specialized SWIR camera. Read More

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http://dx.doi.org/10.1111/wrr.12779DOI Listing
March 2020
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Fibrodysplasia Ossificans Progressiva in a 5-Year Boy.

J Coll Physicians Surg Pak 2019 11;29(11):1129-1130

Department of Radiology, Liaquat National Hospital, Karachi, Pakistan.

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http://dx.doi.org/10.29271/jcpsp.2019.11.1129DOI Listing
November 2019

Skeletal malformations and developmental arthropathy in individuals who have fibrodysplasia ossificans progressiva.

Bone 2020 Jan 23;130:115116. Epub 2019 Oct 23.

Departments of Orthopaedic Surgery, The University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States; Departments of Medicine, The University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States; Departments of The Center for Research in FOP & Related Disorders, The Perelman School of Medicine at The University of Pennsylvania, 3450 Hamilton Walk, 309A Stemmler Hall, Philadelphia, PA 19104, United States. Electronic address:

Rationale: Fibrodysplasia ossificans progressiva (FOP) is primarily a disease of progressive heterotopic ossification (HO) leading to impaired mobility throughout life. An additional diagnostic feature is a characteristic malformation of the great toes. The culpable gene for FOP,ACVR1 (activin A receptor type 1) has a clear effect on the induction of extra-skeletal bone formation. Read More

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http://dx.doi.org/10.1016/j.bone.2019.115116DOI Listing
January 2020
3 Reads

Fibrodysplasia ossificans progressiva.

Rheumatology (Oxford) 2020 Jul;59(7):1789

Department of Rheumatology, All India Institute of Medical Science, New Delhi, India.

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https://academic.oup.com/rheumatology/advance-article/doi/10
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http://dx.doi.org/10.1093/rheumatology/kez479DOI Listing
July 2020
1 Read
4.475 Impact Factor

Analysis of clinical manifestations and treatment in 26 children with fibrodysplasia ossificans progressiva in China.

World J Pediatr 2020 Feb 16;16(1):82-88. Epub 2019 Sep 16.

Department of Rheumatology and Immunology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Nan Li Shi Road No. 56, Beijing, 100045, China.

Background: Fibrodysplasia ossificans progressiva (FOP) is a rare and disabling heritable connective tissue disease that is difficult to treat. This study seeks to explore the clinical characteristics, clinical manifestations, treatment and prognosis of FOP to provide a clinical basis for its early diagnosis and treatment.

Methods: Twenty-six children with FOP were retrospectively analyzed in terms of their onset, clinical manifestations, auxiliary examinations and treatment. Read More

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http://dx.doi.org/10.1007/s12519-019-00302-xDOI Listing
February 2020

Longitudinal Evaluation of Pain, Flare-Up, and Emotional Health in Fibrodysplasia Ossificans Progressiva: Analyses of the International FOP Registry.

JBMR Plus 2019 Aug 1;3(8):e10181. Epub 2019 Mar 1.

Center for Pain and the Brain Department of Anesthesiology Critical Care and Pain Medicine Boston Children's Hospital Harvard Medical School Boston MA USA.

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, inherited, connective tissue disease with ∼800 documented cases worldwide. The principal pathological feature of FOP is the transition of skeletal muscle, tendons, ligaments, and fascia into cartilage and bone. This heterotopic ossification (HO) is often preceded by painful soft tissue swellings or flare-ups that may last several months. Read More

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http://dx.doi.org/10.1002/jbm4.10181DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6715827PMC
August 2019
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Elevated plasma RANTES in fibrodysplasia ossificans progressiva - A novel therapeutic target?

Med Hypotheses 2019 Oct 20;131:109313. Epub 2019 Jul 20.

University Hospital for Infectious Diseases "Dr. Fran Mihaljević", Zagreb, Croatia.

Fibrodysplasia ossificans progressiva (FOP) is a rare hereditary disease caused by a mutation in the intracellular domain of the activin A receptor type I and is characterized by episodes (flare-ups) of progressive heterotopic endochondral ossification (HO) in the soft tissues. The mutation alone is not sufficient for the occurrence of HO since flare-ups are triggered by inflammation and activation of the innate immune system. A number of cellular and humoral mediators have been implicated in animal and in vitro models. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03069877193068
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http://dx.doi.org/10.1016/j.mehy.2019.109313DOI Listing
October 2019
7 Reads

Progressive ossificans fibrodysplasia endodontic management: Case report.

Spec Care Dentist 2019 Sep 16;39(5):543-547. Epub 2019 Aug 16.

Department of Morphology, Faculty of Medicine, Federal University of Ceará, Fortaleza-Ceará, CEP, Brazil.

The objective of this case is to discuss the endodontic management in patient diagnosed with Progressive Ossificans Fibrodysplasia (POF) who sought the dental service due to discomfort in the mandible. Minor mobility of the peripheral joints, spinal involvement, gait limitation, inability to sit, report of joint pain, and limitation of TMJ movements were observed on the extra-oral examination. The intraoral examination revealed the presence of ectopic teeth (13 and 23), prolonged retention of primary teeth (53 and 63), dental gyrosurgery (34 and 33), caries lesion on teeth 36 and 47, and dental crowding. Read More

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http://dx.doi.org/10.1111/scd.12413DOI Listing
September 2019
6 Reads

Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report.

Case Rep Womens Health 2019 Jul 19;23:e00134. Epub 2019 Jul 19.

Leeds Institutes of Rheumatology and Musculoskeletal Medicine, University of Leeds, Chapel Allerton Hospital, Chapeltown Rd, Leeds LS7 4SA, UK.

Fribrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification of connective tissues, episodic flare-ups and bilateral deformities of the great toe (hallux valgus). As faulty tissue repair processes progressively calcify tissue, patients suffer from swelling and limited mobility in that area. We present a case of a 66-year-old woman who had initially presented at age 54 without the hallux valgus deformity or classic-type flare-ups. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22149112193011
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http://dx.doi.org/10.1016/j.crwh.2019.e00134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6664093PMC
July 2019
3 Reads

Activation of G signaling by Pasteurella multocida toxin inhibits the osteoblastogenic-like actions of Activin A in C2C12 myoblasts, a cell model of fibrodysplasia ossificans progressiva.

Bone 2019 10 31;127:592-601. Epub 2019 Jul 31.

Institute for Experimental and Clinical Pharmacology and Toxicology, Faculty of Medicine, University of Freiburg, Albertstr. 25, 79104 Freiburg, Germany.

The human disease fibrodysplasia ossificans progressiva (FOP) is a rare and highly disabling disorder of extensive heterotopic bone growth that is caused by a point mutation (R206H) in the activation domain of Alk2, a BMP (bone morphogenic protein) type 1 receptor. The mutation leads to extensive BMP-signaling induced by Activin A, which is normally an antagonist for wildtype receptors, resulting in excessive and uncontrolled bone formation. Here, we studied the effects of Pasteurella multocida toxin (PMT), which activates osteoclasts and inhibits osteoblast activity, in C2C12 myoblasts expressing the mutant Alk2(R206H) receptor as model of FOP. Read More

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http://dx.doi.org/10.1016/j.bone.2019.07.031DOI Listing
October 2019
2 Reads

Inhibition of phosphatidylinositol 3-kinase α (PI3Kα) prevents heterotopic ossification.

EMBO Mol Med 2019 09 2;11(9):e10567. Epub 2019 Aug 2.

Departament de Ciències Fisiològiques, Universitat de Barcelona, IDIBELL, Hospitalet de Llobregat, Spain.

Heterotopic ossification (HO) is the pathological formation of ectopic endochondral bone within soft tissues. HO occurs following mechanical trauma, burns, or congenitally in patients suffering from fibrodysplasia ossificans progressiva (FOP). FOP patients carry a conserved mutation in ACVR1 that becomes neomorphic for activin A responses. Read More

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http://dx.doi.org/10.15252/emmm.201910567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6728602PMC
September 2019
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[Fibrodysplasia ossificans progressiva. Report of one case].

Rev Med Chil 2019 Mar;147(3):384-389

División de Pediatría, Facultad de Medicina, Pontificia Universidad Católica de Chile, Santiago, Chile.

Fibrodysplasia ossificans progressiva (FOP) or myositis ossificans, is a genetic disease, with a prevalence of 1 in 2.000.000. Read More

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http://dx.doi.org/10.4067/S0034-98872019000300384DOI Listing
March 2019
3 Reads

The role of Activin A in fibrodysplasia ossificans progressiva: a prominent mediator.

Biosci Rep 2019 08 2;39(8). Epub 2019 Aug 2.

Jiangxi Province Key Laboratory of Tumor Pathogens and Molecular Pathology and Department of Pathophysiology, School of Basic Medicine Sciences, Nanchang University Medical College, Nanchang, China.

Heterotopic ossification (HO) is the aberrant formation of mature, lamellar bone in nonosseous tissue. Fibrodysplasia ossificans progressiva (FOP) is a rare and devastating genetic disorder that causes progressive HO in the ligaments, tendons, and muscles throughout the body. FOP is attributed to an autosomal mutation in activin receptor-like kinase 2 (ALK2), a bone morphogenetic protein (BMP) type I receptor. Read More

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http://dx.doi.org/10.1042/BSR20190377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6680371PMC
August 2019
4 Reads