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Search on : Osteopoikilosis [Words]
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[PMID]: 29381938
[Au] Autor:Ye C; Lai Q; Zhang S; Gao T; Zeng J; Dai M
[Ad] Address:Department of Orthopedics, The First Affiliated Hospital of Nanchang University. Artificial Joints Engineering and Technology Research Center of Jiangxi Province, Nanchang, Jiangxi, China.
[Ti] Title:Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report.
[So] Source:Medicine (Baltimore);96(47):e8650, 2017 Nov.
[Is] ISSN:1536-5964
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:RATIONALE: Osteopoikilosis is a rare and asymptomatic disease of the bone, which is often discovered occasionally on radiography for irrelevant complaints. Characterized by multiple, small, circular, or oval-shaped radiodense lesions, it may be confused with bony metastatic tumors. PATIENT CONCERNS: The present study describes a case of a 17-year-old adolescent who suffered from pain and movement limitation of his left thigh following a fall from standing height. DIAGNOSES: Plain radiographs showed spiral fracture in left femoral shaft; besides, multiple scattered sclerotic lesions of variable size were also observed over the bilateral proximal femurs, left distal femur, proximal tibia, and distal tibia and fibula through X-rays, computed tomography, and magnetic resonance imaging. The patient was finally diagnosed with left femoral shaft fracture and osteopoikilosis. INTERVENTIONS: The patient underwent reduction and internal fixation with intramedullary nail a week after injury. OUTCOMES: The patient was discharged without any complications 12 days after the surgery. At the 3-month follow-up, the patient recovered well and remained symptom-free with no changes to his sclerotic lesions. LESSONS: Although this case is not so complicated, we have to be cautious when differentiating osteopoikilosis and bony metastases in clinical practice in future, which should avoid causing undue distress to both the patients and doctors.
[Mh] MeSH terms primary: Femoral Fractures/diagnosis
Femur
Fibula/diagnostic imaging
Neoplasms, Bone Tissue/diagnosis
Osteopoikilosis/diagnosis
Radiography/methods
Tibia/diagnostic imaging
[Mh] MeSH terms secundary: Adolescent
Diagnosis, Differential
Femoral Fractures/surgery
Femur/diagnostic imaging
Femur/injuries
Fracture Fixation, Intramedullary/methods
Humans
Incidental Findings
Magnetic Resonance Imaging/methods
Male
Tomography, X-Ray Computed/methods
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180208
[Lr] Last revision date:180208
[Js] Journal subset:AIM; IM
[Da] Date of entry for processing:180201
[St] Status:MEDLINE
[do] DOI:10.1097/MD.0000000000008650

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[PMID]: 28840995
[Au] Autor:Yoo IY; Song JS; Ki CS; Kim JW; Cha HS; Min YK
[Ad] Address:Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
[Ti] Title:Novel 4-bp Intronic Deletion (c.1560+3_1560+6del) in LEMD3 in a Korean Patient With Osteopoikilosis.
[So] Source:Ann Lab Med;37(6):540-543, 2017 Nov.
[Is] ISSN:2234-3814
[Cp] Country of publication:Korea (South)
[La] Language:eng
[Ab] Abstract:Osteopoikilosis is an autosomal dominant bone disorder characterized by symmetric multiple osteosclerotic lesions throughout the axial and appendicular skeleton. Pathogenic variants in the LEMD3 have been identified as the cause of osteopoikilosis. LEMD3 encodes an inner nuclear membrane protein that interacts with bone morphogenetic protein (BMP) and transforming growth factor (TGF)-ß pathways. We report the case of a 19-year-old man presenting with lower back pain and sciatica. His radiograph revealed bilateral and symmetrical multiple osteosclerotic bone lesions in both scapular areas. Sanger sequencing of LEMD3 revealed a four-base-pair deletion in intron 2 (c.1560+3_1560+6del), which was inherited from his father. We found that this four-base-pair deletion in intron 2 causes aberrant splicing and consequent deletion of exon 2. To the best of our knowledge, this is the first report of genetically confirmed osteopoikilosis in Korea.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1708
[Cu] Class update date: 171101
[Lr] Last revision date:171101
[St] Status:In-Process
[do] DOI:10.3343/alm.2017.37.6.540

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[PMID]: 28760502
[Au] Autor:Lafargue O; Fraitag S; Boccara O; Comoz F; Rod J; Turgis Mezerette C; Dompmartin A
[Ad] Address:Service de dermatologie, CHU de Caen, avenue de la Côte-de-Nacre, CS 30001, 14033 Caen cedex 9, France. Electronic address: rimond-o@chu-caen.fr.
[Ti] Title:Hamartome conjonctif étendu de l'enfant. [Extensive connective tissue nevus in children].
[So] Source:Ann Dermatol Venereol;144(11):700-704, 2017 Nov.
[Is] ISSN:0151-9638
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:BACKGROUND: Connective tissue nevus (CTN) is a rare condition of the extracellular matrix components that generally presents as papulae of normal skin colour. This condition may be syndromic or sporadic. PATIENTS AND METHODS: We report herein two isolated cases of extensive and infiltrative CTN in children at risk for subsequent joint stiffening. The pathology samples displayed respectively mixed hamartoma and a collagenoma. DISCUSSION: The onset of these lesions is often difficult to establish, since they are usually unnoticeable at first. When confronted with extensive CTN, the main differential diagnoses are eosinophilic fasciitis and morphea, and these must be ruled out by skin biopsy. CTN is associated with osteopoikilosis in Buschke-Ollendorf syndrome. Skeletal lesions are asymptomatic and are detected by means of iterative X-ray. Their management comprises symptomatic care.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1708
[Cu] Class update date: 171027
[Lr] Last revision date:171027
[St] Status:In-Process

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[PMID]: 28690741
[Au] Autor:Alaya Z; Osman W; Hassini L; Zaghouani H; Naouar N; Bouajina E
[Ad] Address:Service de Rhumatologie, CHU Farhat Hached, Sousse, Tunisie.
[Ti] Title:Ostéopoécilie associée à un rhumatisme psoriasique. [Osteopecilia associated with psoriatic arthritis].
[So] Source:Pan Afr Med J;26:227, 2017.
[Is] ISSN:1937-8688
[Cp] Country of publication:Uganda
[La] Language:fre
[Ab] Abstract: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.
[Mh] MeSH terms primary: Arthritis, Psoriatic/diagnostic imaging
Osteopoikilosis/diagnostic imaging
Psoriasis/pathology
Sacroiliitis/diagnostic imaging
[Mh] MeSH terms secundary: Adult
Anti-Inflammatory Agents, Non-Steroidal/therapeutic use
Arthritis, Psoriatic/drug therapy
Arthritis, Psoriatic/pathology
Female
Humans
Leg Length Inequality
Methotrexate/therapeutic use
Osteopoikilosis/drug therapy
Osteopoikilosis/pathology
Sacroiliitis/drug therapy
Sacroiliitis/pathology
Tomography, X-Ray Computed
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (Anti-Inflammatory Agents, Non-Steroidal); YL5FZ2Y5U1 (Methotrexate)
[Em] Entry month:1707
[Cu] Class update date: 170719
[Lr] Last revision date:170719
[Js] Journal subset:IM
[Da] Date of entry for processing:170711
[St] Status:MEDLINE
[do] DOI:10.11604/pamj.2017.26.227.12213

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[PMID]: 28676968
[Au] Autor:Kotwal A; Clarke BL
[Ad] Address:Mayo Clinic, E18-A, 200 1st Street SW, Rochester, MN, 55905, USA.
[Ti] Title:Melorheostosis: a Rare Sclerosing Bone Dysplasia.
[So] Source:Curr Osteoporos Rep;15(4):335-342, 2017 Aug.
[Is] ISSN:1544-2241
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1707
[Cu] Class update date: 170801
[Lr] Last revision date:170801
[St] Status:In-Process
[do] DOI:10.1007/s11914-017-0375-y

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[PMID]: 28579321
[Au] Autor:Alvargonzález M; Del Valle L; Parramón C; Quispe C
[Ad] Address:Medicina Familiar y Comunitaria, Centro de Salud Cerro del Aire, Majadahonda, Madrid, España. Electronic address: mariaalvargonzalez@gmail.com.
[Ti] Title:Una radiografía con sorpresa: osteopoiquilosis. [An X-ray with a suprise: Osteopoikilosis].
[So] Source:Semergen;, 2017 Jun 01.
[Is] ISSN:1578-8865
[Cp] Country of publication:Spain
[La] Language:spa
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170605
[Lr] Last revision date:170605
[St] Status:Publisher

  7 / 401 MEDLINE  
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[PMID]: 28434888
[Au] Autor:Whyte MP; Griffith M; Trani L; Mumm S; Gottesman GS; McAlister WH; Krysiak K; Lesurf R; Skidmore ZL; Campbell KM; Rosman IS; Bayliss S; Bijanki VN; Nenninger A; Van Tine BA; Griffith OL; Mardis ER
[Ad] Address:Center for Metabolic Bone Disease and Molecular Research, Shriners Hospital for Children, St. Louis, MO 63110, USA; Division of Bone and Mineral Diseases, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address: mwhyte@shrinenet.org.
[Ti] Title:Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.
[So] Source:Bone;101:145-155, 2017 Aug.
[Is] ISSN:1873-2763
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Melorheostosis (MEL) is the rare sporadic dysostosis characterized by monostotic or polyostotic osteosclerosis and hyperostosis often distributed in a sclerotomal pattern. The prevailing hypothesis for MEL invokes postzygotic mosaicism. Sometimes scleroderma-like skin changes, considered a representation of the pathogenetic process of MEL, overlie the bony changes, and sometimes MEL becomes malignant. Osteopoikilosis (OPK) is the autosomal dominant skeletal dysplasia that features symmetrically distributed punctate osteosclerosis due to heterozygous loss-of-function mutation within LEMD3. Rarely, radiographic findings of MEL occur in OPK. However, germline mutation of LEMD3 does not explain sporadic MEL. To explore if mosaicism underlies MEL, we studied a boy with polyostotic MEL and characteristic overlying scleroderma-like skin, a few bony lesions consistent with OPK, and a large epidermal nevus known to usually harbor a HRAS, FGFR3, or PIK3CA gene mutation. Exome sequencing was performed to ~100× average read depth for his two dermatoses, two areas of normal skin, and peripheral blood leukocytes. As expected for non-malignant tissues, the patient's mutation burden in his normal skin and leukocytes was low. He, his mother, and his maternal grandfather carried a heterozygous, germline, in-frame, 24-base-pair deletion in LEMD3. Radiographs of the patient and his mother revealed bony foci consistent with OPK, but she showed no MEL. For the patient, somatic variant analysis, using four algorithms to compare all 20 possible pairwise combinations of his five DNA samples, identified only one high-confidence mutation, heterozygous KRAS Q61H (NM_033360.3:c.183A>C, NP_203524.1:p.Gln61His), in both his dermatoses but absent in his normal skin and blood. Thus, sparing our patient biopsy of his MEL bone, we identified a heterozygous somatic KRAS mutation in his scleroderma-like dermatosis considered a surrogate for MEL. This implicates postzygotic mosaicism of mutated KRAS, perhaps facilitated by germline LEMD3 haploinsufficiency, causing his MEL.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170721
[Lr] Last revision date:170721
[St] Status:In-Process

  8 / 401 MEDLINE  
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[PMID]: 28407409
[Au] Autor:Fischetto R; Palumbo O; Ortolani F; Palumbo P; Leone MP; Causio FA; Pesce S; Digilio MC; Carella M; Papadia F
[Ad] Address:U.O.C. Malattie Metaboliche Genetica Medica, PO Giovanni XXIII, A.O.U. Policlinico Consorziale, Bari, Italy.
[Ti] Title:Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature.
[So] Source:Am J Med Genet A;, 2017 Apr 13.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract: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.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1704
[Cu] Class update date: 170413
[Lr] Last revision date:170413
[St] Status:Publisher
[do] DOI:10.1002/ajmg.a.38253

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[PMID]: 28289785
[Au] Autor:Wünnemann F; Rehnitz C; Weber MA
[Ad] Address:Klinik für Diagnostische und Interventionelle Radiologie, Universitätsklinikum Heidelberg, Im Neuenheimer Feld 110, 69120, Heidelberg, Deutschland. felix.wuennemann@med.uni-heidelberg.de.
[Ti] Title:Zufallsbefunde in der muskuloskeletalen Radiologie. [Incidental findings in musculoskeletal radiology].
[So] Source:Radiologe;57(4):286-295, 2017 Apr.
[Is] ISSN:1432-2102
[Cp] Country of publication:Germany
[La] Language:ger
[Ab] Abstract:BACKGROUND: Increasing numbers of conventional X­rays, 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.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1703
[Cu] Class update date: 170916
[Lr] Last revision date:170916
[St] Status:In-Process
[do] DOI:10.1007/s00117-017-0231-1

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[PMID]: 27329562
[Au] Autor:Prado Wohlwend S; Sánchez Vaño R; Sopena Novales P; Uruburu García E; Aparisi Rodríguez F; Martínez Carsí C
[Ad] Address:Servicio de Medicina Nuclear, Hospital Nisa 9 de Octubre, Valencia, España. Electronic address: pet@hospitales.nisa.es.
[Ti] Title:Coexistencia de metástasis óseas por cáncer gástrico y osteopoiquilia diagnosticadas mediante gammagrafía ósea y F-FDG PET/TC. Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and F-FDG PET/CT.
[So] Source:Rev Esp Med Nucl Imagen Mol;36(3):189-193, 2017 May - Jun.
[Is] ISSN:2253-8070
[Cp] Country of publication:Spain
[La] Language:eng; spa
[Ab] Abstract:The coexistence of different bone diseases in the same patient involves a complex differential diagnosis. A patient is presented who was studied due to a renal mass that showed many sclerotic lesions in spine and limbs in conventional radiology and CT. These lesions were evaluated with TC-HDP bone scintigraphy and F-FDG PET/CT, which helped to obtain the definitive pathological diagnosis of osteopoikilosis (OP) co-existing with gastric cancer bone metastases. Of the different imaging scans performed, bone scintigraphy was particularly relevant due to its ability to discriminate between benign and metastatic bone disease.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1606
[Cu] Class update date: 170424
[Lr] Last revision date:170424
[St] Status:In-Process


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