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Journal of Pediatric Hematology/oncology Apr 2020Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution,...
Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.
Topics: Bone Neoplasms; Child; DNA-Binding Proteins; Diagnosis, Differential; Female; Germ-Line Mutation; Humans; Membrane Proteins; Neoplasm Metastasis; Neoplasms, Germ Cell and Embryonal; Osteopoikilosis; Ovarian Neoplasms
PubMed: 30951020
DOI: 10.1097/MPH.0000000000001457 -
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 -
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 -
Current Osteoporosis Reports Jun 2018The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of... (Review)
Review
PURPOSE OF REVIEW
The group of sclerosing bone disorders encompasses a variety of disorders all marked by increased bone mass. In this review, we give an overview of the genetic causes of this heterogeneous group of disorders and briefly touch upon the value of these findings for the development of novel therapeutic agents.
RECENT FINDINGS
Advances in the next-generation sequencing technologies are accelerating the molecular dissection of the pathogenic mechanisms underlying skeletal dysplasias. Throughout the years, the genetic cause of these disorders has been extensively studied which resulted in the identification of a variety of disease-causing genes and pathways that are involved in bone formation by osteoblasts, bone resorption by osteoclasts, or both processes. Due to this rapidly increasing knowledge, the insights into the regulatory mechanisms of bone metabolism are continuously improving resulting in the identification of novel therapeutic targets for disorders with reduced bone mass and increased bone fragility.
Topics: Abnormalities, Multiple; Bone Diseases, Developmental; Bone Remodeling; Bone Resorption; High-Throughput Nucleotide Sequencing; Humans; Hyperostosis; Intellectual Disability; Melorheostosis; Osteitis Deformans; Osteoblasts; Osteoclasts; Osteogenesis; Osteopetrosis; Osteopoikilosis; Osteosclerosis; Pycnodysostosis
PubMed: 29656376
DOI: 10.1007/s11914-018-0439-7