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Best Practice & Research. Clinical... Jun 2020Diffuse idiopathic skeletal hyperostosis (DISH) is a systemic bone-forming condition characterized by the presence of at least three bony bridges at the anterolateral... (Review)
Review
Diffuse idiopathic skeletal hyperostosis (DISH) is a systemic bone-forming condition characterized by the presence of at least three bony bridges at the anterolateral spine. The aim of this review was to address the present state of pathophysiological knowledge, the clinical relevance, and diagnosis of DISH. The pathogenesis of DISH is currently unknown. The presence of DISH has been associated with older age, male sex, obesity, hypertension, atherosclerosis, and diabetes mellitus. Because the new bone forms mainly at entheseal sites, local fibroblasts, chondrocytes, collagen fibers, and calcified matrix are probably influenced by genetic, vascular, metabolic, and mechanical factors. Diagnosing the presence of DISH is of clinical importance, because the risk of a spinal fracture increases and associations with the metabolic syndrome, coronary and aortic disease, and respiratory effects are strong. Unravelling the pathogenesis of DISH can impact the field of regenerative medicine and bone tissue regeneration.
Topics: Aged; Bone Development; Humans; Hyperostosis, Diffuse Idiopathic Skeletal; Male; Spine
PubMed: 32456997
DOI: 10.1016/j.berh.2020.101527 -
Journal of Orthopaedic Surgery (Hong... Dec 2016An osteophyte is a fibrocartilage-capped bony outgrowth that is one of the features of osteoarthritis. This study reviewed the types, risk factors, pathophysiology,... (Review)
Review
An osteophyte is a fibrocartilage-capped bony outgrowth that is one of the features of osteoarthritis. This study reviewed the types, risk factors, pathophysiology, clinical presentations, and medical and surgical treatment of osteophytes. Extraspinal osteophytes are classified as marginal, central, periosteal, or capsular, whereas vertebral osteophytes are classified as traction or claw. Risk factors for development of osteophytes include age, body mass index, physical activity, and other genetic and environmental factors. Transforming growth factor β plays a role in the pathophysiology of osteophyte formation. Osteophytes can cause pain, limit range of motion, affect quality of life, and cause multiple symptoms at the spine. Medical treatment involves the use of bisphosphonates and other non-steroidal anti-inflammatory agents. Surgical treatment in the form of cheilectomy for impingement syndromes during joint replacement is recommended.
Topics: Humans; Osteophyte
PubMed: 28031516
DOI: 10.1177/1602400327 -
Schweizer Archiv Fur Tierheilkunde May 2016Diffuse idiopathic skeletal hyperostosis (DISH) is a common, non-inflammatory, systemic disease of the spine and the abaxial skeleton in humans and dogs. Spondylosis... (Review)
Review
Diffuse idiopathic skeletal hyperostosis (DISH) is a common, non-inflammatory, systemic disease of the spine and the abaxial skeleton in humans and dogs. Spondylosis deformans (SD) must be considered as an important differential diagnosis which in humans, unlike DISH, is always accompanied by degenerative disc disease. In the veterinary literature, usually no difference is made between these diseases. The aim of the present review is to summarize essentials of DISH regarding its definition, etiology, prevalence, clinical findings and therapy in both, the human and dog. In particular, the various classification schemes and the most important differential diagnoses are discussed. Specific aspects of canine DISH are highlighted.
Topics: Animals; Diagnosis, Differential; Dog Diseases; Dogs; Humans; Hyperostosis, Diffuse Idiopathic Skeletal
PubMed: 27518578
DOI: 10.17236/sat00061 -
Rhode Island Medical Journal (2013) Nov 2023
Topics: Humans; Exostoses
PubMed: 37890066
DOI: No ID Found -
Current Osteoporosis Reports Oct 2023The study aims to provide updated information on the genetic factors associated with the diagnoses 'Diffuse Idiopathic Skeletal Hyperostosis' (DISH), 'Ossification of... (Review)
Review
PURPOSE OF REVIEW
The study aims to provide updated information on the genetic factors associated with the diagnoses 'Diffuse Idiopathic Skeletal Hyperostosis' (DISH), 'Ossification of the Posterior Longitudinal Ligament' (OPLL), and in patients with spinal ligament ossification.
RECENT FINDINGS
Recent studies have advanced our knowledge of genetic factors associated with DISH, OPLL, and other spinal ossification (ossification of the anterior longitudinal ligament [OALL] and the yellow ligament [OYL]). Several case studies of individuals afflicted with monogenic disorders, such as X-linked hypophosphatemia (XLH), demonstrate the strong association of fibroblast growth factor 23-related hypophosphatemia with OPLL, suggesting that pathogenic variants in PHEX, ENPP1, and DMP1 are associated with FGF23-phosphate wasting phenotype and strong genetic factors placing patients at risk for OPLL. Moreover, emerging evidence demonstrates that heterozygous and compound heterozygous ENPP1 pathogenic variants inducing 'Autosomal Recessive Hypophosphatemic Rickets Type 2' (ARHR2) also place patients at risk for DISH and OPLL, possibly due to the loss of inhibitory plasma pyrophosphate (PP) which suppresses ectopic calcification and enthesis mineralization. Our findings emphasize the importance of genetic and plasma biomarker screening in the clinical evaluation of DISH and OPLL patients, with plasma PP constituting an important new biomarker for the identification of DISH and OPLL patients whose disease course may be responsive to ENPP1 enzyme therapy, now in clinical trials for rare calcification disorders.
Topics: Humans; Hyperostosis, Diffuse Idiopathic Skeletal; Osteogenesis; Ossification of Posterior Longitudinal Ligament; Biomarkers; Ligaments
PubMed: 37530996
DOI: 10.1007/s11914-023-00814-6 -
The Journal of International Medical... Aug 2023Sclerostin, a protein encoded by the sclerostin () gene, is mostly expressed in osteocytes. First described in the pathogenesis of three disorders, sclerosteosis, van... (Review)
Review
Sclerostin, a protein encoded by the sclerostin () gene, is mostly expressed in osteocytes. First described in the pathogenesis of three disorders, sclerosteosis, van Buchem's disease, and craniodiaphyseal dysplasia, sclerostin has been identified as an important regulator of bone homeostasis, controlling bone formation by osteoblasts through inhibition of the canonical Wnt signaling pathway. Recent studies have highlighted a hypothetical role of sclerostin in myogenesis, thus modulating the interaction between bone and muscle. This narrative review provides an overview of the clinical implications of sclerostin modulation on skeletal muscle mass and function, and bone metabolism. Improving knowledge about muscle-bone crosstalk may represent a turning point in the development of therapeutic strategies for musculoskeletal disorders, particularly osteosarcopenia.
Topics: Humans; Hyperostosis; Knowledge; Muscles; Osteoblasts; Osteogenesis
PubMed: 37632438
DOI: 10.1177/03000605231193293 -
AJNR. American Journal of Neuroradiology Jul 2022Diagnosing spontaneous intracranial hypotension and associated CSF leaks can be challenging, and additional supportive imaging findings would be useful to direct further...
BACKGROUND AND PURPOSE
Diagnosing spontaneous intracranial hypotension and associated CSF leaks can be challenging, and additional supportive imaging findings would be useful to direct further evaluation. This retrospective study evaluated whether there was a difference in the prevalence of calvarial hyperostosis in a cohort of patients with spontaneous intracranial hypotension compared with an age- and sex-matched control population.
MATERIALS AND METHODS
Cross-sectional imaging (CT of the head or brain MR imaging examinations) for 166 patients with spontaneous intracranial hypotension and 321 matched controls was assessed by neuroradiologists blinded to the patient's clinical status. The readers qualitatively evaluated the presence of diffuse or layered calvarial hyperostosis and measured calvarial thickness in the axial and coronal planes.
RESULTS
A significant difference in the frequency of layered hyperostosis (31.9%, 53/166 subjects versus 5.0%, 16/321 controls, < .001, OR = 11.58) as well as the frequency of overall (layered and diffuse) hyperostosis (38.6%, 64/166 subjects versus 13.2%, 42/321 controls, < .001, OR = 4.66) was observed between groups. There was no significant difference in the frequency of diffuse hyperostosis between groups (6.6%, 11/166 subjects versus 8.2%, 26/321 controls, = .465). A significant difference was also found between groups for calvarial thickness measured in the axial (< .001) and coronal (< .001) planes.
CONCLUSIONS
Layered calvarial hyperostosis is more prevalent in spontaneous intracranial hypotension compared with the general population and can be used as an additional noninvasive brain imaging marker of spontaneous intracranial hypotension and an underlying spinal CSF leak.
Topics: Case-Control Studies; Cerebrospinal Fluid Leak; Craniofacial Abnormalities; Humans; Hyperostosis; Intracranial Hypotension; Magnetic Resonance Imaging; Myelography; Retrospective Studies
PubMed: 35772803
DOI: 10.3174/ajnr.A7557 -
Clinical Medicine & Research Jun 2017Sternocostoclavicular hyperostosis (SCCH) is an infrequent chronic inflammatory disorder of the axial skeleton of unknown origin. SCCH goes often unrecognized due to a...
Sternocostoclavicular hyperostosis (SCCH) is an infrequent chronic inflammatory disorder of the axial skeleton of unknown origin. SCCH goes often unrecognized due to a low level of awareness for the disorder. It typically presents with relapsing and remitting pain in the shoulder, neck, and anterior chest wall area with occasional swelling and tenderness of the sternoclavicular area. The diagnosis is confirmed radiologically by sclerosis and hyperostosis of the sternoclavicular joints. There have been several reports in which intravenous bisphosphonates and tumor necrosis factor-inhibitors have shown reasonable efficacy in the treatment of this disorder. We report a patient with a long history of SCCH in whom pamidronate 60 mg intravenously every 3 months for 3 years failed to reduce symptom severity and improve radiologic findings.
Topics: Adult; Diphosphonates; Female; Humans; Hyperostosis, Sternocostoclavicular; Pamidronate; Treatment Failure
PubMed: 28751466
DOI: 10.3121/cmr.2017.1352 -
Journal of Dental Research Jul 2022The roles of Wnt/β-catenin signaling in regulating the morphology and microstructure of craniomaxillofacial (CMF) bones was explored using mice carrying a...
The roles of Wnt/β-catenin signaling in regulating the morphology and microstructure of craniomaxillofacial (CMF) bones was explored using mice carrying a constitutively active form of β-catenin in activating Dmp1-expressing cells (e.g., daβcat mice). By postnatal day 24, daβcat mice exhibited midfacial truncations coupled with maxillary and mandibular hyperostosis that progressively worsened with age. Mechanistic insights into the basis for the hyperostotic facial phenotype were gained through molecular and cellular analyses, which revealed that constitutively activated β-catenin in Dmp1-expressing cells resulted in an increase in osteoblast number and an increased rate of mineral apposition. An increase in osteoblasts was accompanied by an increase in osteocytes, but they failed to mature. The resulting CMF bone matrix also had an abundance of osteoid, and in locations where compact lamellar bone typically forms, it was replaced by porous, woven bone. The hyperostotic facial phenotype was progressive. These findings identify for the first time a ligand-independent positive feedback loop whereby unrestrained Wnt/β-catenin signaling results in a CMF phenotype of progressive hyperostosis combined with architecturally abnormal, poorly mineralized matrix that is reminiscent of craniotubular disorders in humans.
Topics: Animals; Hyperostosis; Mice; Osteoblasts; Osteocytes; Wnt Signaling Pathway; beta Catenin
PubMed: 35114849
DOI: 10.1177/00220345211067705 -
RMD Open Dec 2023Synovitis acne pustulosis hyperostosis osteitis (SAPHO) is a rare heterogeneous disease of unknown aetiopathology. Externally validated and internationally agreed... (Review)
Review
BACKGROUND AND OBJECTIVES
Synovitis acne pustulosis hyperostosis osteitis (SAPHO) is a rare heterogeneous disease of unknown aetiopathology. Externally validated and internationally agreed diagnostic criteria or outcomes and, as a result, prospective randomised controlled trials in SAPHO are absent. Consequently, there is no agreed treatment standard. This study aimed to systematically collate and discuss treatment options in SAPHO.
METHODS
Following 'Preferred Reporting Items for Systematic Reviews and Meta-Analyses' guidance, a systematic literature search was conducted using PubMed, Scopus and Web of Science databases. Prospective clinical studies and retrospective case collections discussing management and outcomes in SAPHO involving five or more participants were included. Articles not published in English, studies not reporting defined outcomes, and studies solely relying on patient-reported outcomes were excluded.
RESULTS
A total of 28 studies (20 observational, 8 open-label clinical studies) reporting 796 patients of predominantly European ethnicity were included. Reported therapies varied greatly, with many centres using multiple treatments in parallel. Most patients (37.1%) received non-steroidal anti-inflammatory drugs alone or in combination. Bisphosphonates (22.1%), conventional (21.7%) and biological (11.3%) disease-modifying antirheumatic drugs were the next most frequently reported treatments. Reported outcomes varied and delivered mixed results, which complicates comparisons. Bisphosphonates demonstrated the most consistent improvement of osteoarticular symptoms and were associated with transient influenza-like symptoms. Paradoxical skin reactions were reported in patients treated with TNF inhibitors, but no serious adverse events were recorded. Most treatments had limited or mixed effects on cutaneous involvement. A recent study investigating the Janus kinase inhibitor tofacitinib delivered promising results in relation to skin and nail involvement.
CONCLUSIONS
No single currently available treatment option sufficiently addresses all SAPHO-associated symptoms. Variable, sometimes descriptive outcomes and the use of treatment combinations complicate conclusions and treatment recommendations. Randomised clinical trials are necessary to generate reliable evidence.
Topics: Humans; Acquired Hyperostosis Syndrome; Osteitis; Retrospective Studies; Prospective Studies; Synovitis; Hyperostosis; Acne Vulgaris; Diphosphonates
PubMed: 38151265
DOI: 10.1136/rmdopen-2023-003688