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Annals of Saudi Medicine 2014Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as...
Melorheostosis is an uncommon, sporadic, sclerosing bone lesion that may affect the adjacent soft tissues. It has been associated with many entities such as osteopoikilosis, soft tissue vascular malformations, bone and soft tissue tumors, nephrotic syndrome, segmental limb contractures, osteosarcoma, desmoid tumor, and mesenteric fibromatosis. Synovial osteochondromatosis is a benign neoplasia of the hyaline cartilage presenting as nodules in the subsynovial tissue of a joint or tendon sheath. The intra-articular extension of melorheostosis mimicking synovial osteochondromatosis has not been reported before. In this article, the authors describe an unusual case mimicking synovial chondromatosis arising as a result of melorheostosis and their characteristic imaging findings.
Topics: Chondromatosis, Synovial; Diagnosis, Differential; Female; Humans; Knee Joint; Magnetic Resonance Imaging; Melorheostosis; Middle Aged
PubMed: 25971832
DOI: 10.5144/0256-4947.2014.547 -
RoFo : Fortschritte Auf Dem Gebiete Der... Jun 2018
Topics: Adult; Bone and Bones; Diagnosis, Differential; Female; Humans; Incidental Findings; Magnetic Resonance Imaging; Male; Middle Aged; Osteopoikilosis; Radionuclide Imaging; Tomography, X-Ray Computed
PubMed: 29763949
DOI: 10.1055/a-0577-5399 -
BMJ Case Reports May 2015
Topics: Adult; Humans; Knee; Low Back Pain; Male; Osteopoikilosis; Pelvis; Physical Therapy Modalities; Physical Therapy Specialty; Tomography, X-Ray Computed
PubMed: 25939972
DOI: 10.1136/bcr-2014-208422 -
American Journal of Medical Genetics.... Jul 2017The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To...
The 12q14 microdeletion syndrome is a rare condition characterized by low birth weight, failure to thrive, short stature, learning disabilities, and osteopoikilosis. To date, 20 cases of 12q14 deletion have been reported in the literature, displaying both phenotypic than genetic variability. We report on three familial cases, a mother and two brothers, with severe short stature. The mother and elder brother presented with osteopoikilosis while the younger brother had severe short stature and developmental delay. SNP array analysis revealed a 1.9 Mb heterozygous 12q14.2q14.3 deletion in all three patients encompassing 14 genes and 3 miRNAs. In addition, the younger brother carried a paternal 11q13.4 duplication including the SHANK2 gene. This latter patient was investigated for developmental delay and did not show osteopoikilosis, confirming the role of age in the clinical presentation of this condition. To the best of our knowledge, this is the second family described with the syndrome. Comparing the clinical and molecular data of our patients with those previously reported we performed a detailed genotype-phenotype correlation confirming the association between growth retardation and osteopoikilosis when the rearrangement includes both LEMD3 and HMGA2 genes. In addition, we suggest the XPOT, TBK1, WIF1 genes as candidates for the clinical features observed in our patients and discuss for the first time the possible involvement of some microRNAs, when deleted, in the etiology of the phenotypes in 12q14 microdeletion syndrome patients. We expect the interpretation of our findings to be useful both from a molecular point of view and for genetic counseling.
PubMed: 28407409
DOI: 10.1002/ajmg.a.38253 -
Journal of Cutaneous Pathology Sep 2014Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either...
Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-β (TGF-β) signaling and resultant changes in fibroblast function. TGF-β alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome. Herein, we report a novel association between ossifying fibroma and Buschke-Ollendorff syndrome and discuss how these conditions are likely to be mechanistically linked.
Topics: Bone Neoplasms; Female; Fibroma, Ossifying; Humans; Osteopoikilosis; Skin Diseases, Genetic; Young Adult
PubMed: 24917176
DOI: 10.1111/cup.12365 -
Journal of Physical Therapy Science May 2015[Purpose] Osteopoikilosis is a rare hereditary bone disease that is usually asymptomatic. It is generally diagnosed incidentally on plain radiography. The coexistence of...
[Purpose] Osteopoikilosis is a rare hereditary bone disease that is usually asymptomatic. It is generally diagnosed incidentally on plain radiography. The coexistence of osteopoikilosis with seronegative spondyloarthritis or spinal stenosis is rarely reported. Here, we report the case of a 27-year-old male patient with osteopoikilosis, seronegative spondyloarthritis, and spinal stenosis. [Subject] A 27-year-old male patient with buttock pain and back pain radiating to the legs. [Methods] A plain anteroposterior radiograph of the pelvis revealed numerous round and oval sclerotic bone areas of varying size. Investigation of the knee joints showed similar findings, and the patient was diagnosed with osteopoikilosis. Lumbar magnetic resonance images showed spinal stenosis and degenerative changes in his lumbar facet joints. Magnetic resonance images of the sacroiliac joints showed bilateral involvement with narrowing of both sacroiliac joints, nodular multiple sclerotic foci, and contrast enhancement in both joint spaces and periarticular areas. HLA B-27 test was negative. [Results] The patient was diagnosed with osteopoikilosis, seronegative spondyloarthritis, and spinal stenosis. Treatment included asemetasin twice daily and exercise therapy. [Conclusion] Symptomatic patients with osteopoikilosis should be investigated for other possible coexisting medical conditions; this will shorten the times to diagnosis and treatment.
PubMed: 26157277
DOI: 10.1589/jpts.27.1625 -
Deutsches Arzteblatt International Sep 2019
Topics: Emergency Service, Hospital; Humans; Incidental Findings; Osteopoikilosis
PubMed: 31617484
DOI: 10.3238/arztebl.2019.0662 -
International Journal of Rheumatic... Mar 2015
Topics: Arthritis, Juvenile; Cervical Vertebrae; Female; Humans; Osteopoikilosis; Spinal Fractures
PubMed: 24119186
DOI: 10.1111/1756-185X.12177 -
The Pan African Medical Journal 2017Osteopecilia is a benign and rare condensing osteopathy. Its association with inflammatory rheumatism is very rare. We here report the case of a 25-year old patient with...
Osteopecilia is a benign and rare condensing osteopathy. Its association with inflammatory rheumatism is very rare. We here report the case of a 25-year old patient with skin psoriasis, presenting with groin pain of inflammatory origin. Physical examination showed limitation of hip motions, lower limb-length inequality and pain on right sacroiliac mobilization. Laboratory tests showed inflammatory syndrome and negative immunological assessment. The radiograph of the pelvis revealed osteopecilia associated with destructive coxitis. CT scan of the pelvis showed coxitis and osteopecilia associated with bilateral sacroiliitis. The diagnosis of psoriatic arthritis associated with osteopecilia was retained. The patient was treated with methotrexate and NSAIDS. Osteopecilia usually is unexpectedly detected. Diagnostic radiology is essential to avoid unnecessary explorations and treatments.
Topics: Adult; Anti-Inflammatory Agents, Non-Steroidal; Arthritis, Psoriatic; Female; Humans; Leg Length Inequality; Methotrexate; Osteopoikilosis; Psoriasis; Sacroiliitis; Tomography, X-Ray Computed
PubMed: 28690741
DOI: 10.11604/pamj.2017.26.227.12213 -
Anales de Pediatria Nov 2019
Topics: Adolescent; Humans; Male; Osteopoikilosis; Tomography, X-Ray Computed
PubMed: 30389430
DOI: 10.1016/j.anpedi.2018.10.003