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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 -
British Journal of Haematology Feb 2022Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with frequent multiorgan involvement. An accurate diagnosis of ECD requires the correlation of clinical...
Erdheim-Chester disease (ECD) is a rare histiocytic neoplasm with frequent multiorgan involvement. An accurate diagnosis of ECD requires the correlation of clinical features, histopathologic and radiologic findings. We describe a case series of patients with a referral diagnosis of ECD, whereby the diagnosis was changed to non-histiocytic diseases after comprehensive review at a tertiary care center. This accurate revision of the referral diagnosis of ECD enabled initiation of proper disease-directed therapy in a timely manner for these patients and avoided unnecessary exposure to systemic cytotoxic chemotherapy or targeted agents. Our study highlights the value of a multidisciplinary team of histiocytosis experts in confirming the diagnosis of ECD and also brings attention to other conditions to consider that can mimic ECD, including osteopoikilosis, tenosynovial giant cell tumour, IgG4-related disease, fibrous dysplasia and chronic recurrent multifocal osteomyelitis.
Topics: Adult; Aged; Erdheim-Chester Disease; Female; Humans; Male; Middle Aged
PubMed: 34799853
DOI: 10.1111/bjh.17949 -
Der Radiologe Dec 2021Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case... (Review)
Review
CLINICAL/METHODICAL ISSUE
Diagnosis of sclerosing and hyperostotic bone disorders (SHS) is challenging. The correct and early identification of SHS can have therapeutic, prognostic and, in case of genetic SHS with regard to the risk of inheritance, advisory consequences.
STANDARD RADIOLOGICAL METHODS
For diagnosis, radiographic examinations and supplementary computed tomography (CT) and magnetic resonance imaging (MRI) are used. These are of indicative nature. Definitive diagnosis is usually made by genetic differentiation.
METHODICAL INNOVATIONS
In combination with the age of the affected person and the location of the osseous changes the characteristic image criteria are important. These are summarized in groups in this overview.
PRACTICAL RECOMMENDATIONS
Projection radiography in two planes is the imaging modality of choice. CT and MR can detect additional differential diagnostic criteria and should be indicated when needed.
Topics: Bone and Bones; Humans; Magnetic Resonance Imaging; Radiography; Tomography, X-Ray Computed
PubMed: 34735583
DOI: 10.1007/s00117-021-00930-3 -
International Journal of Surgery Case... Oct 2021Osteopoikilosis (OPK) is an extremely rare benign condition with sclerosing bony dysplasia and multiple benign enostoses. OPK is usually asymptomatic and is typically an...
INTRODUCTION
Osteopoikilosis (OPK) is an extremely rare benign condition with sclerosing bony dysplasia and multiple benign enostoses. OPK is usually asymptomatic and is typically an incidental finding on imaging studies for unrelated conditions.
CASE PRESENTATION
We presented a case of OPK in a 7-year-old female with hallux valgus, shortening and deformity of second and third metatarsals in the right foot. These abnormalities were observed on clinical findings with X-ray imaging, and osteopoikilosjs was confirmed by histopathology. The deformities were treated with surgical intervention, and the patient's condition was followed for 3 months until the patient walked and removed the gypsum.
DISCUSSION
OP is a rare, benign disease that rarely causes bony deformities. It is diagnosed clinically and radiographically, so that the deformities are treated only surgically. Follow-up is necessary to assess the movement of the limb.
CONCLUSION
The distinctive thing that can be added to the medical literature is that it is possible for osteopoikilosis to cause bone deformities at an early age.
PubMed: 34601316
DOI: 10.1016/j.ijscr.2021.106447 -
Annales de Dermatologie Et de... Jun 2022
Topics: Humans; Osteopoikilosis; Skin Diseases, Genetic
PubMed: 34511237
DOI: 10.1016/j.annder.2021.07.004 -
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 -
International Journal of Paleopathology Sep 2021To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.
OBJECTIVE
To improve the differential diagnosis of osteopoikilosis in past populations using a clinical case as an example of this rare condition.
MATERIALS
A patient referred to our Genetic Service with suspected Buschke Ollendorff Syndrome after finding a connective nevus.
METHODS
Radiological images from different body regions were accompanied by a genetic study using next-generation sequencing.
RESULTS
Small circular-to-ellipsoid sclerotic lesions were found in the epiphysis and metaphysis of long bones, as well as in the pelvis. These lesions were bilaterally distributed and with well-defined margins, compatible with the characteristics of Buschke Ollendorff Syndrome, bone manifestation osteopoikilosis. A heterozygous mutation on LEMD3 (NM_001167614:c.1918 + 1G > C) was identified by next-generation sequencing. Based on this confirmed case, we have discussed the most probable causes of similar bone lesions found in the archaeological record.
CONCLUSION
It has been demonstrated how a current case of a rare disease can provide useful tools to improve the differential diagnosis of this disease in ancient skeletons.
SIGNIFICANCE
This work underlines the great need for multidisciplinary platforms that integrates clinical research into paleopathology in order to successfully address the study of rare diseases from the past.
LIMITATIONS
Since OPK is only detected by X-rays, suspected cases of this bone lesion will only be identified when radiographs are taken for other purposes.
SUGGESTIONS FOR FURTHER RESEARCH
Retrospective and large-scale studies of radiographs from other research in past populations.
Topics: Humans; Osteopoikilosis; Rare Diseases; Retrospective Studies; Skin Diseases, Genetic
PubMed: 34098227
DOI: 10.1016/j.ijpp.2021.05.010 -
Rheumatology (Oxford, England) Feb 2022
Topics: Aged, 80 and over; Femur Head; Hand Bones; Humans; Humeral Head; Male; Osteopoikilosis; Radiography; Tomography, X-Ray Computed
PubMed: 33989397
DOI: 10.1093/rheumatology/keab436 -
BMC Musculoskeletal Disorders Apr 2021Osteopoikilosis (OPK) is a rare benign sclerosing bone dysplasia and is often incidentally found on plain radiography. OPK generally does not require treatment....
BACKGROUND
Osteopoikilosis (OPK) is a rare benign sclerosing bone dysplasia and is often incidentally found on plain radiography. OPK generally does not require treatment. Nevertheless, osteonecrosis or degenerative joint disease can occur in the setting of OPK, and little is known with regard to the longevity of arthroplasty prostheses implanted into OPK-bearing bones.
CASE PRESENTATION
A 55-year-old male presented with progressive right hip pain in 2012. He was diagnosed with coexisting osteopoikilosis and developmental dysplasia of the right hip with advanced osteoarthritis after a series of imaging studies including radiographs, magnetic resonance imaging (MRI), and bone scan. A cementless total hip arthroplasty was performed to treat his right hip pain. Radiographs at eight-year follow-up showed the prosthetic components were well-fixed. Harris hip score of the patient's right hip was 93. The patient can walk without assistance and work as a construction worker.
CONCLUSION
Cementless arthroplasty can be considered in patients with hip arthropathies and co-existing osteopoikilosis. Continued follow-up is required to establish the long-term results.
Topics: Arthroplasty, Replacement, Hip; Follow-Up Studies; Hip Dislocation; Hip Dislocation, Congenital; Hip Prosthesis; Humans; Male; Middle Aged; Osteoarthritis, Hip; Osteopoikilosis; Treatment Outcome
PubMed: 33888114
DOI: 10.1186/s12891-021-04258-w -
International Journal of Paleopathology Jun 2021This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the... (Review)
Review
OBJECTIVE
This paper aims to provide a quantitative estimation of the representation of diseases defined as rare today in the bioarchaeological literature and to outline the reasons for this.
MATERIALS
A 45-year bibliometric study of publications in seven bioarchaeological journals, along with two journals and editorial groups of broader scientific focus.
METHODS
Analyses of distribution patterns of the search hits and diachronic trends for achondroplasia, autosomal-dominant osteopetrosis, osteogenesis imperfecta, and osteopoikilosis, compared to those for tuberculosis as control measure of coverage.
RESULTS
Studies of ancient rare diseases (ARD) are mostly published as case reports in specialized journals and their number did not benefit from the introduction of biomolecular studies. The higher frequency of cases of achondroplasia suggests that not all rare diseases are equally under-represented.
CONCLUSIONS
Rare diseases are still largely under-represented in bioarchaeological literature. Their marginality likely results from a combination of taphonomic, methodological and public visibility factors.
SIGNIFICANCE
This article is the first attempt to provide a quantitative assessment of the under-representation of ARD and to outline the factors behind it.
LIMITATIONS
Rare diseases are an etiologically heterogeneous group. The number of surveyed journals and articles, as well as targeted diseases might be limiting factors.
SUGGESTIONS FOR FURTHER RESEARCH
Increasing collection and dissemination of data on ARD; opening a wide-ranging debate on their definition; implementation of biomolecular studies.
Topics: Bibliometrics; Humans; Paleopathology; Rare Diseases
PubMed: 33813348
DOI: 10.1016/j.ijpp.2021.03.003