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Deutsches Arzteblatt International Sep 2019
Topics: Emergency Service, Hospital; Humans; Incidental Findings; Osteopoikilosis
PubMed: 31617484
DOI: 10.3238/arztebl.2019.0662 -
Annals of Laboratory Medicine Mar 2019This corrects the article on p. 540 in vol. 37, PMID: 28840995.
This corrects the article on p. 540 in vol. 37, PMID: 28840995.
PubMed: 30430792
DOI: 10.3343/alm.2019.39.2.235 -
Cureus Sep 2018Osteopoikilosis is a rare condition that is characterized by multiple small non-aggressive appearing sclerotic foci in a periarticular distribution. Typically, it does...
Osteopoikilosis is a rare condition that is characterized by multiple small non-aggressive appearing sclerotic foci in a periarticular distribution. Typically, it does not cause any symptoms and is diagnosed incidentally on imaging studies done for other reasons. We present a case of osteopoikilosis in a 37-year-old male, which was diagnosed incidentally on radiographs.
PubMed: 30430046
DOI: 10.7759/cureus.3253 -
Anales de Pediatria Nov 2019
Topics: Adolescent; Humans; Male; Osteopoikilosis; Tomography, X-Ray Computed
PubMed: 30389430
DOI: 10.1016/j.anpedi.2018.10.003 -
BJR Case Reports 2018In patients with breast cancer, the appearance of sclerotic bone lesions on imaging should raise the suspicion of skeletal metastases. However, before making the...
In patients with breast cancer, the appearance of sclerotic bone lesions on imaging should raise the suspicion of skeletal metastases. However, before making the diagnosis it is important to consider the clinical context and remember that there are conditions that can mimic bone metastasis. We present two cases of mimics of bone metastasis: systemic mastocytosis and osteopoikilosis. These cases demonstrate clinical and radiological characteristics that would make a diagnosis of bone metastasis less likely, and highlight the need for an awareness of mimics of bone metastasis.
PubMed: 30363150
DOI: 10.1259/bjrcr.20170091 -
Nucleic Acids Research Dec 2018Receptor-regulated SMAD (R-SMAD: SMAD1, SMAD2, SMAD3, SMAD5 and SMAD8) proteins are key transcription factors of the transforming growth factor-β (TGF-β) superfamily...
Receptor-regulated SMAD (R-SMAD: SMAD1, SMAD2, SMAD3, SMAD5 and SMAD8) proteins are key transcription factors of the transforming growth factor-β (TGF-β) superfamily of cytokines. MAN1, an integral protein of the inner nuclear membrane, is a SMAD cofactor that terminates TGF-β superfamily signals. Heterozygous loss-of-function mutations in MAN1 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. MAN1 interacts with MAD homology 2 (MH2) domains of R-SMAD proteins using its C-terminal U2AF homology motif (UHM) domain and UHM ligand motif (ULM) and facilitates R-SMAD dephosphorylation. Here, we report the structural basis for R-SMAD recognition by MAN1. The SMAD2-MAN1 and SMAD1-MAN1 complex structures show that an intramolecular UHM-ULM interaction of MAN1 forms a hydrophobic surface that interacts with a hydrophobic surface among the H2 helix, the strands β8 and β9, and the L3 loop of the MH2 domains of R-SMAD proteins. The complex structures also show the mechanism by which SMAD cofactors distinguish R-SMAD proteins that possess a highly conserved molecular surface.
Topics: Amino Acid Motifs; Animals; Computer Simulation; Crystallography, X-Ray; Cytokines; DNA Mutational Analysis; DNA-Binding Proteins; HEK293 Cells; Humans; Hydrophobic and Hydrophilic Interactions; Membrane Proteins; Mutation; Nuclear Envelope; Nuclear Proteins; Phosphorylation; Protein Binding; Protein Domains; Signal Transduction; Smad1 Protein; Smad2 Protein; Smad3 Protein; Transforming Growth Factor beta
PubMed: 30321401
DOI: 10.1093/nar/gky925 -
Deutsches Arzteblatt International Jun 2018
Topics: Adolescent; Ankle; Arthralgia; Humans; Male; Osteopoikilosis; Radiography
PubMed: 30017032
DOI: 10.3238/arztebl.2018.0454b -
Journal of Orthopaedic Case Reports 2018Osteopoikilosis and enchondroma existing together have not been reported in literature, and this is the first report of the management of the same.
INTRODUCTION
Osteopoikilosis and enchondroma existing together have not been reported in literature, and this is the first report of the management of the same.
CASE REPORT
A 26-year-old male presented with dull aching pain with swelling around the knuckle of the left index finger of 1 month duration. On examination, there was a swelling of approximately 1x1 cm on the dorsal aspect. Typical radiographic changes of osteopoikilosis and enchondroma were present.
CONCLUSION
Enchondroma coexistence with osteopoikilosis is rare. Diagnosis is suspected on plain radiographs and confirmed by the histopathologic study. Enucleation of the tumor with bone graft provides good results.
PubMed: 29854696
DOI: 10.13107/jocr.2250-0685.1000 -
Molecular Imaging and Radionuclide... Feb 2018Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function...
Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the cytosine nucleotide at position 1105 with molecular genetic analysis. Although this mutation has not been previously described, it was considered to be the most likely cause of the disease in our patient due to frame shift and premature stop codon formation. As in our case, three phase bone scintigraphy and whole body imaging did not reflect the true extent of lesion sites and lesion activity. SPECT/CT images could reflect lesion location and activity more accurately, and could be a good alternative for differential diagnosis of unexplained bone pain and sclerotic lesions in one examination.
PubMed: 29393055
DOI: 10.4274/mirt.25743 -
Medicine Nov 2017Osteopoikilosis is a rare and asymptomatic disease of the bone, which is often discovered occasionally on radiography for irrelevant complaints. Characterized by...
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.
Topics: Adolescent; Diagnosis, Differential; Femoral Fractures; Femur; Fibula; Fracture Fixation, Intramedullary; Humans; Incidental Findings; Magnetic Resonance Imaging; Male; Neoplasms, Bone Tissue; Osteopoikilosis; Radiography; Tibia; Tomography, X-Ray Computed
PubMed: 29381938
DOI: 10.1097/MD.0000000000008650