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Clinical Rheumatology Nov 2023
Topics: Humans; Myositis Ossificans; Musculoskeletal System; Skeleton
PubMed: 37488373
DOI: 10.1007/s10067-023-06712-7 -
Nederlands Tijdschrift Voor... Jul 2023Fibrodysplasia ossificans progressiva is a rare hereditary bone disease characterized by so-called heterotopic bone formation: the formation of new bone in areas of the...
Fibrodysplasia ossificans progressiva is a rare hereditary bone disease characterized by so-called heterotopic bone formation: the formation of new bone in areas of the body where bone normally never develops. Due to the formation of this heterotopic bone, approximately 70% of patients eventually also experience limitations in the mobility of the jaw, which in many cases results in a significantly reduced maximum mouth opening. Because of these jaw-related problems, teeth are sometimes extracted in these patients. Periodontal ligament fibroblasts can be isolated from these teeth, cells that play a role in both bone formation and bone breakdown. The location in the jaw area where heterotopic bone formation takes place determines the effect on maximal mouth opening. In addition, periodontal ligament fibroblasts are shown to be very useful for (fundamental) research into exceptional bone diseases such as fibrodysplasia ossificans progressiva.
Topics: Humans; Myositis Ossificans; Periodontal Ligament; Fibroblasts; Ossification, Heterotopic
PubMed: 37428461
DOI: 10.5177/ntvt.2023.07/08.23019 -
Pediatrics Aug 2023Imaging modalities such as computed tomography (CT) are critical for monitoring musculoskeletal abnormalities in children with rare diseases. However, CT exposes...
Imaging modalities such as computed tomography (CT) are critical for monitoring musculoskeletal abnormalities in children with rare diseases. However, CT exposes patients to radiation, which limits its utility in the clinical setting, particularly during longitudinal evaluation. Synthetic CT is a novel, noncontrast, and rapid MRI method that can provide CT-like images without any radiation exposure and is easily performed in conjunction with traditional MRI, which detects soft-tissue and bone marrow abnormalities. To date, an evaluation of synthetic CT in pediatric patients with rare musculoskeletal diseases has been lacking. In this case series, the capability of synthetic CT to identify musculoskeletal lesions accurately in 2 rare disease patients is revealed. In Case 1, synthetic CT, in agreement with routine CT, identified an intraosseous lesion in the right femoral neck in a 16-year-old female with fibrous dysplasia, whereas standard-of-care MRIs additionally revealed mild surrounding edema-like bone marrow signal. For Case 2, synthetic CT applied to a 12-year-old female with fibrodysplasia ossificans progressiva revealed heterotopic ossification present along the cervical spine that had caused the fusion of multiple vertebrae. Our evaluation of synthetic CT offers important insights into the feasibility and utility of this methodology in children with rare diseases affecting the musculoskeletal system.
Topics: Female; Humans; Child; Adolescent; Rare Diseases; Myositis Ossificans; Ossification, Heterotopic; Tomography, X-Ray Computed; Magnetic Resonance Imaging
PubMed: 37416976
DOI: 10.1542/peds.2022-061027 -
Radiology. Cardiothoracic Imaging Jun 2023Myositis ossificans (MO) is an uncommon tumor characterized by a rapidly growing mass following a history of local trauma. Few cases of MO affecting the breast have been...
Myositis ossificans (MO) is an uncommon tumor characterized by a rapidly growing mass following a history of local trauma. Few cases of MO affecting the breast have been reported, and some were misdiagnosed as primary osteosarcoma of the breast or metaplastic breast carcinoma. The following case report presents a patient with a growing breast lump whose core biopsy result was suspicious for breast cancer. MO was diagnosed after analysis of the mastectomy specimen. This case highlights the importance of MO as a differential diagnosis of a growing soft-tissue mass after trauma to avoid unnecessary overtreatment. Myositis Ossificans, Osteosarcoma, Breast Cancer, Mastectomy, Heterotopic Ossification © RSNA, 2023.
PubMed: 37404791
DOI: 10.1148/ryct.230023 -
Clinical Case Reports Jun 2023Traumatic myositis ossificans of the temporal muscle can occur following local trauma The diagnosis could be considered for patients presenting with therapy-resistant...
KEY CLINICAL MESSAGE
Traumatic myositis ossificans of the temporal muscle can occur following local trauma The diagnosis could be considered for patients presenting with therapy-resistant trismus after intraoral procedures
ABSTRACT
A female in her 30s developed ossification of the temporal muscle attachment after local trauma during dental treatment, resulting in an inability to open her mouth. Following surgical treatment and physical therapy acceptable mouth opening and masticatory function was achieved.
PubMed: 37361667
DOI: 10.1002/ccr3.7410 -
Insights Into Imaging Jun 2023Bizarre parosteal osteochondromatous proliferation (BPOP) is a surface-based bone lesion belonging to the group of benign chondrogenic tumors. The aim of this review is... (Review)
Review
Bizarre parosteal osteochondromatous proliferation (BPOP) is a surface-based bone lesion belonging to the group of benign chondrogenic tumors. The aim of this review is to familiarize the readers with imaging features and differential diagnosis of BPOP, also addressing pathological presentation and treatment options. The peak of incidence of BPOP is in the third and fourth decades of life, although it can occur at any age. Hands are the most common location of BPOP (55%), followed by feet (15%) and long bones (25%). On imaging, BPOP appears as a well-marginated mass of heterotopic mineralization arising from the periosteal aspect of the bone. Typical features of BPOP are contiguity with the underlying bone and lack of cortico-medullary continuity, although cortical interruption and medullary involvement have been rarely reported. Histologically, BPOP is a benign bone surface lesion characterized by osteocartilaginous proliferation with disorganized admixture of cartilage with bizarre features, bone and spindle cells. Differential diagnosis includes both benign-such as florid reactive periostitis, osteochondroma, subungual exostosis, periosteal chondroma and myositis ossificans-and malignant lesions-such as periosteal chondrosarcoma and surface-based osteosarcoma. Treatment consists of surgical resection. Local recurrences are common and treated with re-excision.Critical relevance statement Bizarre parosteal osteochondromatous proliferation is a benign mineralized mass arising from the periosteal aspect of bone cortex. Multi-modality imaging characteristics, pathology features and differential diagnosis are here highlighted to familiarize the readers with this entity and offer optimal patient care.
PubMed: 37336832
DOI: 10.1186/s13244-023-01455-0 -
Clinical Radiology Sep 2023To describe the imaging features of fasciitis ossificans and its histopathological features.
AIM
To describe the imaging features of fasciitis ossificans and its histopathological features.
MATERIALS AND METHODS
Using a word search of existing pathology reports at the Mayo Clinic, six cases of fasciitis ossificans were identified. The clinical history, histology, and available imaging of the affected area were reviewed.
RESULTS
Imaging consisted of radiographs, mammograms, ultrasound images, bone scintigraphs, computed tomography (CT), and magnetic resonance imaging (MRI) images. All cases demonstrated a soft-tissue mass. The characteristic MRI appearance was a T2 hyperintense enhancing mass with surrounding soft-tissue oedema. Peripheral calcifications were seen on radiographs, CT, and/or ultrasound. Histological sections showed distinct zonation, with nodular fasciitis-like zones of myofibroblastic proliferation, which merged with osteoblasts that rim the ill-defined trabeculae of woven bone and became continuous with the mature lamellar bone surrounded by a thin layer of compressed fibrous tissue.
CONCLUSION
Imaging features of fasciitis ossificans are that of an enhancing soft-tissue mass located within a fascial plane with prominent surrounding oedema and mature peripheral calcification. Imaging and histology are that of myositis ossificans but occurring within the fascia. It is important that radiologists are aware of the diagnosis of fasciitis ossificans and appreciate its similarity to myositis ossificans. This is particularly important in anatomical locations with fascias but no muscle. Given the radiographic and histological overlap between these entities, nomenclature that encompasses both could be considered in the future.
Topics: Humans; Myositis Ossificans; Diagnosis, Differential; Fasciitis; Tomography, X-Ray Computed; Calcinosis; Magnetic Resonance Imaging; Edema
PubMed: 37331849
DOI: 10.1016/j.crad.2023.05.008 -
Journal of Bone and Mineral Research :... Sep 2023Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic condition characterized by altered skeletal development and extraskeletal bone formation. All cases...
Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic condition characterized by altered skeletal development and extraskeletal bone formation. All cases of FOP are caused by mutations in the type I bone morphogenetic protein (BMP) receptor gene ACVR1 that result in overactivation of the BMP signaling pathway. Activation of the wild-type ACVR1 kinase requires assembly of a tetrameric type I and II BMP receptor complex followed by phosphorylation of the ACVR1 GS domain by type II BMP receptors. Previous studies showed that the FOP-mutant ACVR1-R206H required type II BMP receptors and presumptive glycine/serine-rich (GS) domain phosphorylation for overactive signaling. Structural modeling of the ACVR1-R206H mutant kinase domain supports the idea that FOP mutations alter the conformation of the GS domain, but it is unclear how this leads to overactive signaling. Here we show, using a developing zebrafish embryo BMP signaling assay, that the FOP-mutant receptors ACVR1-R206H and -G328R have reduced requirements for GS domain phosphorylatable sites to signal compared to wild-type ACVR1. Further, ligand-independent and ligand-dependent signaling through the FOP-mutant ACVR1 receptors have distinct GS domain phosphorylatable site requirements. ACVR1-G328R showed increased GS domain serine/threonine requirements for ligand-independent signaling compared to ACVR1-R206H, whereas it exhibited reduced serine/threonine requirements for ligand-dependent signaling. Remarkably, while ACVR1-R206H does not require the type I BMP receptor partner, Bmpr1, to signal, a ligand-dependent GS domain mutant of ACVR1-R206H could signal independently of Bmpr1 only when Bmp7 ligand was overexpressed. Of note, unlike human ACVR1-R206H, the zebrafish paralog Acvr1l-R203H does not show increased signaling activity. However, in domain-swapping studies, the human kinase domain, but not the human GS domain, was sufficient to confer overactive signaling to the Acvr1l-R203H receptor. Together these results reflect the importance of GS domain activation and kinase domain functions in regulating ACVR1 signaling and identify mechanisms of reduced regulatory constraints conferred by FOP mutations. © 2023 American Society for Bone and Mineral Research (ASBMR).
Topics: Animals; Humans; Activin Receptors, Type I; Bone Morphogenetic Protein Receptors; Ligands; Mutation; Myositis Ossificans; Signal Transduction; Zebrafish
PubMed: 37329499
DOI: 10.1002/jbmr.4869 -
Journal of Clinical Pathology Sep 2023() rearrangements have been identified in aneurysmal bone cyst, nodular fasciitis, myositis ossificans, fibro-osseous pseudotumour of digits and cellular fibroma of...
() rearrangements have been identified in aneurysmal bone cyst, nodular fasciitis, myositis ossificans, fibro-osseous pseudotumour of digits and cellular fibroma of tendon sheath. These entities show clinical as well as histological overlap, suggesting they are all clonal neoplastic belonging to the same biological spectrum and referred to as '-associated neoplasms'. They all show a characteristic gene fusion formed by juxtaposition of the coding sequences to the promoter regions of several partner genes, leading to transcriptional upregulation.
Topics: Humans; Fasciitis; Gene Rearrangement; Bone Cysts, Aneurysmal; Gene Fusion; Fibroma; Ubiquitin Thiolesterase
PubMed: 37328256
DOI: 10.1136/jcp-2023-208896 -
Stem Cell Research Aug 2023Urine cells obtained from a 14-year-old man with genetically proven (ACVR1: c.6176G > A) and clinically manifested fibrodysplasia ossificans progressiva were...
Urine cells obtained from a 14-year-old man with genetically proven (ACVR1: c.6176G > A) and clinically manifested fibrodysplasia ossificans progressiva were successfully transformed into induced pluripotent stem cells by using Sendai virus-based reprogramming vectors including the four Yamanaka factors such as OCT3/4, SOX2, KLF4, and c-MYC. These iPSCs expressed pluripotency markers, exhibited the potential to differentiate into three germ layers in spontaneous differentiation assay and had a normal karyotype. The iPSC line may provide a model for development of a personalized treatment including genome editing and drug screening, may be used for disease modelling, cell differentiation and pharmacological investigations. .
Topics: Male; Humans; Adolescent; Induced Pluripotent Stem Cells; Myositis Ossificans; Kruppel-Like Factor 4; Cell Differentiation; Sendai virus; Cellular Reprogramming
PubMed: 37307755
DOI: 10.1016/j.scr.2023.103133