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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 -
Medicina 2023
Topics: Humans; Osteopoikilosis; Incidental Findings; Radiography
PubMed: 38117729
DOI: No ID Found -
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 -
Lancet (London, England) Jan 2014
Topics: Adolescent; Humans; Male; Osteopoikilosis; Tomography, X-Ray Computed
PubMed: 23910432
DOI: 10.1016/S0140-6736(13)60674-1 -
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 -
The Medical Journal of Australia Oct 2022
Topics: Humans; Osteopoikilosis; Islands; Joint Diseases; Diagnosis, Differential
PubMed: 36087936
DOI: 10.5694/mja2.51719 -
Clinical Rheumatology Apr 2012Osteopoikilosis (OPK) is a rare, benign, and asymptomatic bone dysplasia that is developed during childhood and persists throughout life. This condition is generally... (Review)
Review
Osteopoikilosis (OPK) is a rare, benign, and asymptomatic bone dysplasia that is developed during childhood and persists throughout life. This condition is generally found incidentally on plain radiographies made by other reasons. The main differential diagnosis is osteoblastic metastasis. So, OPK must be in differential diagnosis when bone lesions are identified on plain radiograph to avoid alarming the patient with more serious disease and misdiagnosis. In this paper, we review the clinical manifestation, pathophysiology, diagnosis, and treatment of OPK.
Topics: Adult; Analgesics; Humans; Male; Osteopoikilosis
PubMed: 22246417
DOI: 10.1007/s10067-011-1916-x -
Deutsches Arzteblatt International Sep 2019
Topics: Emergency Service, Hospital; Humans; Incidental Findings; Osteopoikilosis
PubMed: 31617484
DOI: 10.3238/arztebl.2019.0662 -
Irish Journal of Medical Science Dec 2010Osteopoikilosis is a rare and asymptomatic disease of the bone that is often discovered incidentally on radiography. On a plain radiograph it is manifested by multiple,...
INTRODUCTION
Osteopoikilosis is a rare and asymptomatic disease of the bone that is often discovered incidentally on radiography. On a plain radiograph it is manifested by multiple, small, circular or oval shaped radio-dense lesions which are diagnostic for this condition and are often mistaken for metastatic disease.
MATERIALS AND METHODS
We present the case of a 24-year-old female patient with osteopoikilosis diagnosed incidentally on radiographs.
CONCLUSION
Osteopoikilosis is a benign sclerosing dysplasia of bone of unknown aetiology that requires no specific treatment.
Topics: Carpal Bones; Female; Humans; Incidental Findings; Osteopoikilosis; Radiography; Sclerosis; Young Adult
PubMed: 20886307
DOI: 10.1007/s11845-010-0595-y