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Case Report of Osteopoikilosis: Sparse Cause of Bone Pain and Mimicker of Metastasis on Radiographs.Journal of Orthopaedic Case Reports Mar 2021Osteopoikilosis (OPK) is an extremely rare benign condition with autosomal dominant inheritance characterized by sclerosing bony dysplasia with multiple benign...
INTRODUCTION
Osteopoikilosis (OPK) is an extremely rare benign condition with autosomal dominant inheritance characterized by sclerosing bony dysplasia with multiple benign enostoses. It is characterized by symmetrically distributed numerous, small, well-defined, homogenous circular or ovoid radiodensities clustered in epiphysis and metaphysis of long bones in periarticular region, and in some cases diffusely present throughout axial and appendicular skeleton. There is no age and sex predilection; age at the time of diagnosis ranges from 15 to 60 years. It is usually asymptomatic but rarely in 15-20% patients slight juxta-articular pain and joint effusions can be seen. These are incidental radiological findings in most of the cases, also sometimes confused as bony metastasis. There are no specific clinical features; histological features are similar to bony island and it may be associated with connective tissue disorders, synovial osteochondromatosis, and a rare bone condition melorheostosis.
CASE REPORT
We present a case of OPK in a 32-year-old male with bilateral hip and shoulder pain, based on the available literature and focus on clinical significance, due to its mimicking capability of other more severe conditions such as bone metastases and an extremely uncommon cause of bone pain.
CONCLUSION
OPK is an uncommon hereditary condition involving juxta-articular region of long bones with intricate etiopathogenesis, often discovered incidentally on radiographs. It is characterized by multiple, symmetrical ovoid radiodensities, and in most instances confused with osteoblastic metastasis. This concludes that OPK is a condition that should be kept in mind to avoid misdiagnosis, in particular osteoblastic metastasis and undue distress to both the patients and doctors.
PubMed: 34239839
DOI: 10.13107/jocr.2021.v11.i03.2106 -
The Turkish Journal of Pediatrics 2019Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61:...
Elmaoğulları S, Yıldız AE, Demir S, Gürkan H, Uçaktürk SA. A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis. Turk J Pediatr 2019; 61: 594-598. 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 have sclerotic lesions on X-ray. Both of them were asymptomatic and the bone scan of the boy ruled out osteoblastic metastases. We have shown that the boy and his mother have a previously unknown pathogenic variant of the LEMD3 gene, supporting the diagnosis of osteopoikilosis.
Topics: Adolescent; Autoantigens; DNA Mutational Analysis; DNA-Binding Proteins; Female; Humans; Male; Membrane Proteins; Mothers; Mutation; Osteopoikilosis; Radiography
PubMed: 31990479
DOI: 10.24953/turkjped.2019.04.018 -
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 -
The Oncologist Mar 2022Histiocytic disorders pose significant diagnostic and management challenges for the clinicians due to diverse clinical manifestations and often non-specific...
INTRODUCTION
Histiocytic disorders pose significant diagnostic and management challenges for the clinicians due to diverse clinical manifestations and often non-specific histopathologic findings. Herein, we report the tumor board experience from the first-of-its-kind Histiocytosis Working Group (HWG).
MATERIALS AND METHODS
The HWG was established in June 2017 and consists of experts from 10 subspecialties that discuss cases in a multidisciplinary format. We present the outcome of tumor board case discussions during the first 2 years since its inception (June 2017-June 2019).
RESULTS
Forty cases with a suspected histiocytic disorder were reviewed at HWG during this time period. Average number of subspecialties involved in HWG case discussion was 5 (range, 2-9). Histiocytosis Working Group tumor board recommendations led to significant changes in the care of 24 (60%) patients. These included change in diagnosis (n = 11, 27%) and change in treatment (n = 13, 33%).
CONCLUSION
Our report highlights the feasibility of a multidisciplinary tumor board and its impact on outcomes of patients with histiocytic disorders.
Topics: Histiocytosis; Humans; Neoplasms
PubMed: 35641201
DOI: 10.1093/oncolo/oyab031 -
Medicine Jun 2016Osteopoikilosis is a benign but rare condition characterized by bone islands throughout the osseous tissue, which could be easily confused with bone metastasis. We... (Review)
Review
Osteopoikilosis is a benign but rare condition characterized by bone islands throughout the osseous tissue, which could be easily confused with bone metastasis. We present a case of a 37-year-old man presented to orthopedic outpatient clinic with right hip pain for 2 weeks. There were multiple, small punctate lesions scattered throughout the skeleton on radiograph. Subsequent Tc-99m methylene diphosphonate (MDP) bone scan with pelvic single-photon emission computed tomography (SPECT)/computed tomography (CT) showed multiple enostoses without abnormal focal MDP uptake. Therefore, clinical diagnosis was compatible with osteopoikilosis while bone metastasis was unlikely. The symptoms then improved by conservative treatments. Osteopoikilosis is usually an incidental finding on radiograph or CT, and a normal MDP confirmed the diagnosis by excluding bone metastasis. It is important for clinicians to recognize the specific image features to prevent further unnecessary interventions. In addition, bone SPECT/CT could also make the diagnosis in one step.
Topics: Adult; Diagnosis, Differential; Humans; Incidental Findings; Male; Osteopoikilosis; Pelvic Bones; Radiopharmaceuticals; Single Photon Emission Computed Tomography Computed Tomography; Technetium Tc 99m Medronate
PubMed: 27281099
DOI: 10.1097/MD.0000000000003868 -
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 -
Caspian Journal of Internal Medicine 2015Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to...
BACKGROUND
Osteopoikilosis (OPK) is a rare inherited condition of the bones, transmitted as an autosomal dominant trait characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during x-rays made by other reasons. We present a case of 34-year-old man suffering from polyarthralgia and low back pain.
CASE PRESENTATION
A 34-year-old male patient, smoking 40 packs yearly and alcoholic was referred to our department of rheumatology, complaining of polyarthralgia which started 3 years ago and involving large and small joints. He reported the presence of pelvic pain mostly located at both hip joints and in the two ankles. On radiologic examination, numerous, symmetric, well defined, sclerotic lesions were identified on shoulder, wrist, ankles, pelvis, and on spine. The size of the lesions varied from 2 to 9 millimeters. These spots were located on spongious bone tissue, and in the inner bone cortex located bilaterally in the epiphyses and metaphyses. We concluded the diagnosis of OPK. His mother was found to have the same lesions without any symptoms.
CONCLUSION
OPK may be an isolated finding or associated with other pathologies, e.g. skin manifestations, rheumatic and/or skeletal disorders. The main differential diagnosis is osteoblastic metastasis.
PubMed: 26644888
DOI: No ID Found -
Clinical Case Reports Jan 2022Osteopoikilosis (OPK) is one of the rare genetic musculoskeletal, non-inflammatory disorders that we should increase awareness toward. We report a case of a patient...
Osteopoikilosis (OPK) is one of the rare genetic musculoskeletal, non-inflammatory disorders that we should increase awareness toward. We report a case of a patient diagnosed with psoriatic arthritis with incidental imaging findings of lesions suggestive of osteopoikilosis.
PubMed: 35059199
DOI: 10.1002/ccr3.5263 -
Clinical Case Reports Feb 2021Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal...
Osteopoikilosis (OP) is a rare autosomal dominant sclerosing bone disease, caused by heterozygous mutations in the LEMD3 gene. It is characterised by numerous focal lamellar bone compact deposits in the spongiosa. In this case report, we describe a famliar case of OP and review the literature.
PubMed: 33598273
DOI: 10.1002/ccr3.3611 -
ARP Rheumatology 2022
Topics: Bone Diseases; Humans; Osteopoikilosis; Radiography
PubMed: 35810377
DOI: No ID Found