Distrofia ósea esclerosante mixta / Mixed-sclerosing-bone-dystrophy

El término "distrofia ósea esclerosante mixta" describe la combinación de las características radiológicas correspondientes a melorreostosis, osteopoiquilosis y osteopatía estriada, como entidades individuales, que ocurren en un mismo paciente. El objetivo de esta comunicación es presentar el caso clínico de una paciente con diagnóstico de distrofia ósea esclerosante mixta y, a partir de este caso, realizar una revisión sobre el tema. (AU)

The term "mixed-sclerosing-bone-dystrophy" describes the combination of the radiological characteristics corresponding to melorheostosis, osteopoikilosis and osteopathia striata, as individual conditions, ocurring in the same patient. The aim of this communication is to present the clinical case of a patient diagnosed with mixed-sclerosing-bone-dystrophy and, based on this case, to undertake a review of this condition. (AU)

Osteopoikilosis found incidentally in a 17-year-old adolescent with femoral shaft fracture: A case report.

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.

Melorheostosis: segmental osteopoikilosis or a separate entity?

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.

Osteopoikilosis masquerading as osseous metastases in breast cancer.

Osteopoikilosis (OPK) is a rare, congenital bone disorder characterised by multiple round or ovoid radio densities appearing throughout the axial and appendicular skeleton. It is usually an asymptomatic condition diagnosed incidentally on radiological imaging, and may mimic other bone disorders, including osseous metastases. In this case report, we present a patient with lobular breast cancer whose computed tomography findings were thought to be consistent with osseous cancer metastases. Radionuclide bone scintigraphy plays a key role in distinguishing OPK from osteoblastic bone metastases. This case demonstrates the importance of a clinical awareness of OPK to ensure that patients with potentially curable disease are properly diagnosed.

Osteopoikilosis: what does the rheumatologist must know about it?

Osteopoikilosis (OPK) is a rare, benign, and asymptomatic bone dysplasia that is developed during childhood and persists throughout life. This condition is generally found incidentally on plain radiographies made by other reasons. The main differential diagnosis is osteoblastic metastasis. So, OPK must be in differential diagnosis when bone lesions are identified on plain radiograph to avoid alarming the patient with more serious disease and misdiagnosis. In this paper, we review the clinical manifestation, pathophysiology, diagnosis, and treatment of OPK.

Displasias óseas: a propósito de una historia familiar / Bone dysplasias: a presentaion of a family history

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A rare benign disorder mimicking metastasis on radiographic examination: a case report of osteopoikilosis.

Osteopoikilosis (OPK) is a rare, autosomal dominant bone disorder, characterized by multiple, discrete round or ovoid radio densities scattered throughout the axial and appendicular skeleton. OPK is usually asymptomatic but rarely there may be slight articular pain and joint effusions. OPK is generally diagnosed incidentally on radiographic examinations and may mimic different bone pathologies, including bone metastases. Radionuclide bone scan has a critical role in distinguishing OPK from osteoblastic bone metastases. In this case report, we present a young man with right hip pain due to OPK, whose plain radiogram and computerized tomography findings thought cancer metastasis.

Osteopoiquilosis: a propósito de un caso / No disponible

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Osteopoikilosis.

Osteopoikilosis is very rare autosomal dominant disorder of unknown etiology which is found incidentally on radiological examination. It is also known as Albers-Schonberg disease or osteopathia condensans disseminata, characterized by the presence of multiple and often symmetrical radio-dense lesion in osseous tissue. Here we report a case of osteopoikilosis in a 30 years old man presented with left hip joint pain and restricted movements. Radiological study showed typical features of osteopoikilosis. Necessary investigations were done to exclude osteoblastic metastasis, tuberous sclerosis and synovial chondromatosis. The patient was treated with pharmacological and non-pharmacological approach with significant improvement of joint pain and movements.

Rare monogenetic syndromes in rheumatology practice.

The EULAR Executive Committee defined eight overall objectives for EULAR to achieve by 2012. The first of these objectives is to strengthen activities in areas that are currently less prioritized, such as non-inflammatory and orphan diseases. This study aims to increase awareness of rheumatologists towards rare hereditary musculoskeletal disorders, by describing their genetics, pathogenesis, and typical clinical and radiological features. We analyzed patient charts from the recent 5 years from the Rheumatology Outpatient Department of the University Erlangen-Nuremberg and of two rheumatologic practices, all joined in a regional network ("Rheumazentrum Erlangen") retrospectively for hereditary musculoskeletal disorders other than hemochromatosis, autoinflammatory syndromes, lysosomal storage diseases, and hypermobility syndromes. We were able to identify four patients with trichorhinophalangeal syndrome type I, multiple exostoses, Kirner's deformity, and osteopoikilosis. In addition, a PubMed and OMIM ("Online Mendelian Inheritance in Man") database search was carried out using these as key words and all relevant articles were reviewed for each of these diseases. Our findings show that rare hereditary musculoskeletal disorders occur in a routine rheumatological setting and that rheumatologists should know the clinical and radiological features of these diseases in order to adequately counsel the patient.

Reasoned approach to multiple osteosclerotic lesions. Combined diagnostic imaging in a case of osteopoikilosis.

The case of a female patient who had undergone mastectomy for infiltrating ductal carcinoma and come to the Orthopedics Division for lumbosacral pain unresponsive to conventional treatment is discussed. Pelvic X-ray, CT and scintigraphy were performed. The presence of multiple areas of selerosis of the pelvis and proximal femurs were documented. The differential range could be limited to osteoblastic metastasis and osteopoikilosis. The diagnosis of osteopoikilosis was established based on scintigraphy which proved the absence of uptake of the radiotracer.

Coexistence of osteopoikilosis and discoid lupus erythematosus: a case report.

Osteopoikilosis is an uncommon, benign sclerosing bone dysplasia characterised by typical roentgenographic findings and usually seen in patients with dermatological problems. We report a case of osteopoikilosis and discoid lupus erythematosus presenting with skin and mucosal involvement, an association that has never previously been reported. We also discuss the differential diagnosis and the clinical pathologies accompanying osteopoikilosis in the literature.

[Osteopoikilosis--case report]. / Osteopoikilosis--prikaz slucaja.

A very rare case of osteopoikilosis, a disease which is an asymptomatic, genotypical osteopathy with an unknown cause, is described. Most often it is discovered by accidental radiography and it is characterized by the appearance of spotted and oval foci of compact cortical and lameral bone inside the canselous bones. The most common localization of these disorders are epiphyses and metaphyses of the long bones. The disorders have a static character and they do not demand any kind of treatment.