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Rheumatology (Oxford, England) Feb 2022
Topics: Aged, 80 and over; Femur Head; Hand Bones; Humans; Humeral Head; Male; Osteopoikilosis; Radiography; Tomography, X-Ray Computed
PubMed: 33989397
DOI: 10.1093/rheumatology/keab436 -
Postgraduate Medical Journal Dec 2019
Topics: Acetabulum; Adult; Calcinosis; Diagnosis, Differential; Femur Head; Humans; Male; Osteopoikilosis; Patient Care Management; Tomography, X-Ray Computed
PubMed: 31371461
DOI: 10.1136/postgradmedj-2019-136705 -
Der Radiologe Dec 2021Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case... (Review)
Review
CLINICAL/METHODICAL ISSUE
Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case of genetic SHS with regard to the risk of inheritance, advisory consequences.
STANDARD RADIOLOGICAL METHODS
For diagnosis, radiographic examinations and supplementary computed tomography (CT) and magnetic resonance imaging (MRI) are used. These are of indicative nature. Definitive diagnosis is usually made by genetic differentiation.
METHODICAL INNOVATIONS
In combination with the age of the affected person and the location of the osseous changes the characteristic image criteria are important. These are summarized in groups in this overview.
PRACTICAL RECOMMENDATIONS
Projection radiography in two planes is the imaging modality of choice. CT and MR can detect additional differential diagnostic criteria and should be indicated when needed.
Topics: Bone and Bones; Humans; Magnetic Resonance Imaging; Radiography; Tomography, X-Ray Computed
PubMed: 34735583
DOI: 10.1007/s00117-021-00930-3 -
Endocrine Practice : Official Journal... Aug 2020
Topics: Adult; Female; Humans; Osteopoikilosis; Surveys and Questionnaires
PubMed: 33471688
DOI: 10.4158/EP-2019-0578 -
The British Journal of Dermatology Apr 2016
Topics: Humans; Osteopoikilosis; Skin Diseases, Genetic; Syndrome
PubMed: 27115577
DOI: 10.1111/bjd.14488 -
Current Osteoporosis Reports Aug 2017Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we... (Review)
Review
PURPOSE OF REVIEW
Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition.
RECENT FINDINGS
Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series. Melorheostosis affects the appendicular skeleton more commonly than the axial skeleton and usually presents with lower limb deformity. Diagnosis is based on a combination of clinical and radiological features that help differentiate this condition from other sclerosing bone dysplasias. LEM domain-containing protein 3 (LEMD3) gene mutations have been demonstrated in several familial cases, but these have been more strongly correlated with other hereditary dysplasias, such as osteopoikilosis, and are not thought to be the causative gene for melorheostosis. The exact etiology of classic sporadically occurring melorheostosis remains unknown, with possible causes being somatic LEMD3 mutations, somatic mutations in the bone morphogenetic protein/transforming growth factor-beta pathway, mutations in multiple genes, or other non-genetic causes. Management in recent years has involved nitrogen-containing bisphosphonates in addition to traditional orthopedic surgical approaches and physical therapy. Melorheostosis may present as mixed or atypical osseous involvement in addition to the classically described "dripping candle wax" appearance of hyperostosis. Some patients may have overlap with osteopoikilosis or Buschke-Ollendorff syndrome. In the future, better characterization of genetic and developmental factors predisposing to melorheostosis may lead to the development of targeted therapy for this condition, as well as for more commonly encountered skeletal abnormalities.
Topics: Bone and Bones; DNA-Binding Proteins; Humans; Joint Capsule Release; Melorheostosis; Membrane Proteins; Mutation; Nuclear Proteins; Osteotomy; Pain Management; Radiography; Rare Diseases; Tenotomy
PubMed: 28676968
DOI: 10.1007/s11914-017-0375-y -
Calcified Tissue International May 2019Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the appendicular skeleton in a limited segmental fashion. It occasionally occurs... (Review)
Review
Melorheostosis is an exceptionally rare sclerosing hyperostosis that typically affects the appendicular skeleton in a limited segmental fashion. It occasionally occurs on a background of another benign generalised sclerosing bone condition, known as osteopoikilosis caused by germline mutations in LEMD3, encoding the inner nuclear membrane protein MAN1, which modulates TGFβ/bone morphogenetic protein signalling. Recent studies of melorheostosis lesional tissue indicate that most cases arise from somatic MAP2K1 mutations although a small number may arise from other genes in related pathways, such as KRAS. Those cases associated with MAP2K1 mutations are more likely to have the classic "dripping candle wax" appearance on radiographs. The relationship between these somatic mutations and those found in a variety of malignant conditions is discussed. There are also similar germline mutations involved in a group of genetic disorders known as the RASopathies (including Noonan syndrome, Costello syndrome and various cardiofaciocutaneous syndromes), successful treatments for which could be applied to melorheostosis. The diagnosis and management of melorheostosis are discussed; there are 4 distinct radiographic patterns of melorheostosis and substantial overlap with mixed sclerosing bone dysplasia. Medical treatments include bisphosphonates, but definitive guidance on their use is lacking given the small number of patients that have been studied. Surgical intervention may be required for those with large bone growths, nerve entrapments, joint impingement syndromes or major limb deformities. Bone regrowth is uncommon after surgery, but recurrent contractures represent a major issue in those with extensive associated soft tissue involvement.
Topics: Bone Morphogenetic Proteins; Bone and Bones; DNA-Binding Proteins; Diagnosis, Differential; Genetic Predisposition to Disease; Germ-Line Mutation; Humans; MAP Kinase Kinase 1; Melorheostosis; Membrane Proteins; Osteopoikilosis; Proto-Oncogene Proteins p21(ras); Signal Transduction; Transforming Growth Factor beta
PubMed: 30989250
DOI: 10.1007/s00223-019-00543-y -
Der Radiologe Apr 2017Increasing numbers of conventional X‑rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an... (Review)
Review
BACKGROUND
Increasing numbers of conventional X‑rays, computed tomography and magnetic resonance imaging in the inpatient, outpatient and scientific routine leads to an increasing number of incidental findings. The correct interpretation of these incidental findings with respect to the relevance and the evaluation concerning further work-up is an important task of radiologists.
OBJECTIVE
Description of common incidental findings in musculoskeletal imaging and their clinical classification.
MATERIAL AND METHODS
A PubMed literature search was performed using the following terms: incidental findings, population-based imaging, musculoskeletal imaging, non-ossifying fibroma, enchondroma, osteodystrophia deformans, chondrosarcoma, fibrous dysplasia, simple bone cyst, unicameral bone cyst, solitary bone cyst, aneurysmal bone cyst, vertebral hemangioma, bone island, osteopoikilosis, Tarlov cyst and diffuse idiopathic skeletal hyperostosis (DISH).
RESULTS
Incidental findings are observed in up to 40% of imaging procedures. In up to 6% these incidental findings involve the skeletal system. Common incidental findings are discussed and their clinical relevance is explained.
Topics: Bone Cysts, Aneurysmal; Humans; Incidental Findings; Magnetic Resonance Imaging; Musculoskeletal Diseases; Musculoskeletal System; Radiography; Tomography, X-Ray Computed
PubMed: 28289785
DOI: 10.1007/s00117-017-0231-1 -
Journal of Medical Case Reports Jul 2023Osteopoikilosis, also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, is a rare bone disorder. The case presented here...
BACKGROUND
Osteopoikilosis, also referred to as disseminated condensing osteopathy, spotted bone disease, or osteopecilia, is a rare bone disorder. The case presented here showcases multiple disc lesions in the spine, extensive multifocal skin lesions, and positive test results for dermatomyositis and multifocal enthesopathy, accompanied by neurological symptoms. This manifestation represents a novel variant of the disease.
CASE PRESENTATION
Our patient is a 46-year-old mosque Kurdish servant presenting with complaints of pain in the right leg, lower back, right hand, and neck. Additionally, the patient has been experiencing redness in the right buttock and ipsilateral thigh, as well as gradually expanding and stiffening skin lesions on the left shin for the past 3 weeks. Painful neck movements and a positive Lasegue test were also observed in the right leg. The patient reports pain in the right buttock accompanied by a substantial erythematous area with induration measuring 8 × 15 cm, as well as an erythematous and maculopapular lesion measuring 6 × 18 cm on the left shin.
CONCLUSIONS
Our patient is a 46-year-old man presenting with complaints of skin lesions and pain in the lower back, pelvis, neck, and limbs. The X-ray reveals shoulder, pelvis, knee, and ankle involvement, while spinal involvement is observed in the neck and lumbar region. Furthermore, the bone scan indicates extensive enthesopathy in various regions, a unique manifestation not previously reported in similar cases.
Topics: Male; Humans; Middle Aged; Osteopoikilosis; Enthesopathy; Tomography, X-Ray Computed; Leg; Bone Diseases; Lumbosacral Region
PubMed: 37434212
DOI: 10.1186/s13256-023-04025-6 -
Current Osteoporosis Reports Jun 2018The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of... (Review)
Review
PURPOSE OF REVIEW
The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents.
RECENT FINDINGS
Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Bone Remodeling; Bone Resorption; High-Throughput Nucleotide Sequencing; Humans; Hyperostosis; Intellectual Disability; Melorheostosis; Osteitis Deformans; Osteoblasts; Osteoclasts; Osteogenesis; Osteopetrosis; Osteopoikilosis; Osteosclerosis; Pycnodysostosis
PubMed: 29656376
DOI: 10.1007/s11914-018-0439-7