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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 -
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 -
CMAJ : Canadian Medical Association... Mar 2011
Topics: Adult; Diagnosis, Differential; Humans; Knee; Male; Osteopoikilosis; Tomography, X-Ray Computed
PubMed: 21242269
DOI: 10.1503/cmaj.081519 -
BMJ Case Reports Oct 2011
Topics: Adolescent; Femur; Hip Joint; Humans; Male; Osteopoikilosis; Pain; Pelvic Bones; Radiography
PubMed: 22675102
DOI: 10.1136/bcr.08.2011.4726 -
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 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 -
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 -
CMAJ : Canadian Medical Association... Mar 2011
Review
Topics: Diagnosis, Differential; Female; Humans; Osteopoikilosis; Radiography
PubMed: 21242270
DOI: 10.1503/cmaj.091740 -
Canadian Family Physician Medecin de... Oct 1999
Topics: Adolescent; Ankle Joint; Diagnosis, Differential; Humans; Knee Injuries; Knee Joint; Male; Osteopoikilosis; Radiography
PubMed: 10540690
DOI: No ID Found -
The Israel Medical Association Journal... Apr 2005
Review
Topics: DNA-Binding Proteins; Humans; Membrane Proteins; Mutation; Nuclear Proteins; Osteopoikilosis; Smad Proteins; Trans-Activators
PubMed: 15847215
DOI: No ID Found