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Journal of Pediatric Orthopedics Mar 2015Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other...
PURPOSE
Melorheostosis is a progressive hyperostotic bone disease that commonly affects the appendicular skeleton. Melorheostosis has a significant degree of overlap with other hyperostosis conditions including osteopoikilosis and likely represent varying degrees of a clinical spectrum.
METHODS
This is a report of 2 patients with melorheostosis who presented with different clinical presentations and involvement of different anatomic locations.
RESULTS
One of the patients presented with foot size asymmetry along with intermittent foot pain and limping. This patient also had irregular nonblanching yellow plaque-like lesion on the forehead. The second patient presented with abnormal gait but no pain. Radiographs demonstrated endosteal hyperostosis, which were consistent with a mixed picture of melorheostosis and osteopoikilois. Genetic testing of the LEMD3 gene from a blood sample was negative in both cases.
CONCLUSIONS
The diagnosis of melorheostosis can be made based on the clinical and radiographic features and can be challenging to differentiate from other hyperostosis conditions.
LEVEL OF EVIDENCE
Level V.
Topics: Child; Child, Preschool; Diagnosis, Differential; Foot; Foot Bones; Genetic Testing; Humans; Male; Melorheostosis; Muscle Stretching Exercises; Organ Size; Osteopoikilosis; Postural Balance; Radiography
PubMed: 25575356
DOI: 10.1097/BPO.0000000000000384 -
Skeletal Radiology Nov 2016To describe the bone imaging features of lipodystrophies in the largest cohort ever published.
OBJECTIVE
To describe the bone imaging features of lipodystrophies in the largest cohort ever published.
MATERIALS AND METHODS
We retrospectively examined bone imaging data in 24 patients with lipodystrophic syndromes. Twenty-two had genetic lipodystrophy: 12/22 familial partial lipodystrophy (FPLD) and 10/22 congenital generalized lipodystrophy (CGL), 8 with AGPAT2-linked CGL1 and 2 with seipin-linked CGL2. Two patients had acquired generalized lipodystrophy (AGL) in a context of non-specific autoimmune disorders. Skeletal radiographs were available for all patients, with radiographic follow-up for two. Four patients with CGL1 underwent MRI, and two of them also underwent CT.
RESULTS
Patients with FPLD showed non-specific degenerative radiographic abnormalities. Conversely, CGL patients showed three types of specific radiographic alterations: diffuse osteosclerosis (in 7 patients, 6 with CGL1 and 1 with CGL2), well-defined osteolytic lesions sparing the axial skeleton (7 CGL1 and 1 CGL2), and pseudo-osteopoikilosis (4 CGL1). Pseudo-osteopoikilosis was the sole bone abnormality observed in one of the two patients with AGL. Osteolytic lesions showed homogeneous low signal intensity (SI) on T1-weighted and high SI on T2-weighted MR images. Most of them were asymptomatic, although one osteolytic lesion resulted in a spontaneous knee fracture and secondary osteoarthritis in a patient with CGL1. MRI also showed diffuse fatty bone marrow alterations in patients with CGL1, with intermediate T1 and high T2 SI, notably in radiographically normal areas.
CONCLUSIONS
The three types of peculiar imaging bone abnormalities observed in generalized lipodystrophic syndromes (diffuse osteosclerosis, lytic lesions and/or pseudo-osteopoikilosis) may help clinicians with an early diagnosis in pauci-symptomatic patients.
Topics: Acyltransferases; Adolescent; Adult; Aged; Bone and Bones; Child; Child, Preschool; Chorionic Gonadotropin; Diagnosis, Differential; Female; Genetic Predisposition to Disease; Humans; Lipodystrophy, Congenital Generalized; Male; Middle Aged; Osteosclerosis; Syndrome; Young Adult
PubMed: 27631079
DOI: 10.1007/s00256-016-2457-9 -
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 -
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 -
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 -
Injury Jul 2015
Topics: Adult; Athletic Injuries; Bone and Bones; Football; Humans; Incidental Findings; Knee Injuries; Knee Joint; Magnetic Resonance Imaging; Male; Osteopoikilosis; Patient Education as Topic; Prognosis; United Kingdom
PubMed: 25707878
DOI: 10.1016/j.injury.2015.02.005 -
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 -
BMJ (Clinical Research Ed.) Apr 2018
Topics: Arthralgia; Football; Humans; Incidental Findings; Knee Joint; Male; Meniscectomy; Osteopoikilosis; Radiography; Treatment Outcome; Young Adult
PubMed: 29650542
DOI: 10.1136/bmj.k596 -
Semergen Mar 2018
Topics: Arm; Hand; Humans; Male; Middle Aged; Osteopoikilosis; Radiography
PubMed: 28579321
DOI: 10.1016/j.semerg.2017.04.008 -
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