Results 11 to 20 of about 903 (178)
Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant [PDF]
Case Reports in Dermatological Medicine, 2016 Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which
Benjamin Korman +4 more
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Pain as a Clinical Presentation of Osteopoikilosis
Annals of Internal Medicine: Clinical Cases, 2023 Osteopoikilosis, or disseminated condensing osteopathy, is an osteosclerosing dysplasia that is a rare genetic disorder of autosomal-dominant genetic transmission, and recent research suggests that the possible cause of osteopoikilosis might be the loss ...
Jorge Roberto Mosqueira Sanchez +2 more
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Acta Orthopaedica et Traumatologica Turcica, 2021 Osteopolkilosis is a rare condition showing characteristic multiple sclerotic lesions on radiographic examination. Roentgenographic findings are diagnostic.
Cihangir Yurdoglu +3 more
doaj +6 more sources
Rheumatology, 2014 Osteopoikilosis is an uncommon hereditary dysplasia of skeleton characterized by small sclerotic foci clustered mainly in periarticular osseus regions. The radiographic pattern is pathognomonic.
Irena Zimmermann-Górska
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Osteopoikilosis and multiple exostoses caused by novel mutations in
BMC Medical Genetics, 2010 Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Horn Denise +7 more
doaj +3 more sources
A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis [PDF]
The Turkish Journal of Pediatrics, 2019 Osteopoikilosis (OPK) is a rare, benign condition characterized by osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrists, feet, ankles, pelvis, and scapulae. We report a 16-year-old boy and his mother incidentally found to
Selin Elmaoğulları +4 more
doaj +2 more sources
Osteopoikilosis: A Sign Mimicking Skeletal Metastases in a Cancer Patient
Middle East Journal of Cancer, 2011 Osteopoikilosis is a rare benign osteosclerotic bone disorder that may be misdiagnosed as skeletal metastases. Here we describe a case of coincidental breast cancer and osteopoikilosis mimicking skeletal metastases.
Hamid Nasrolahi +8 more
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Incidentally Diagnosed Osteopoikilosis: A Case Report [PDF]
Türk Osteoporoz Dergisi, 2017 Osteopoikilosis is a rare bone dysplasia. Patients are generally asymptomatic and are frequently identified during radiological imaging by coincidence. The epiphysis and metaphysis of the long bones, the phalanges and pelvic bones are the localizations ...
Mustafa Reşorlu +3 more
doaj +2 more sources
Melorheostosis: Clinical, radiological, and histopathological features with a literature review. [PDF]
Physiol RepAbstract Melorheostosis is a rare sclerosing bone dysplasia that can clinically and radiologically mimic common bone disorders, particularly in atypical presentations. Its heterogeneous manifestations and limited awareness among clinicians frequently contribute to diagnostic delays or misdiagnosis. We report the case of a 34‐year‐old woman with chronic
Koca E +5 more
europepmc +2 more sources