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Mazabraud Syndrome

Monostotic fibrous dysplasia


Presentation

  • […] of Mazabraud syndrome title_short An atypical monomelic presentation of Mazabraud syndrome title_full An atypical monomelic presentation of Mazabraud syndrome title_fullStr An atypical monomelic presentation of Mazabraud syndrome title_full_unstemmed[vufind.uniovi.es]
  • In this article, we briefly discuss the history and evolution of the term Mazabraud syndrome, then detail the spectrum of imaging findings as they relate to the variable pathology and clinical presentations that may be encountered.[ncbi.nlm.nih.gov]
  • Case presentation&58; A 24-year-old male in overall good health status, presented with progressive left knee swelling over 6 years with no other associated symptoms.[ingentaconnect.com]
  • However, when presented as atypical clinical features, patients of Mazabraud syndrome is either misdiagnosed or difficult to diagnose.[ijoonline.com]
  • presentation need to be investigated thoroughly to rule out associated diseases and to evaluate the extent of such pathology.[infona.pl]
Cervical Lymphadenopathy
  • Lemierre's disease • Fusobacter • Sore throat • Swollen painful neck (cervical lymphadenopathy) • Lung abscess • Pleuritic chest pain • Arthralgia / arthritis 141. Lucey - Driscol syn drome • Transient familial neonatal • Hyperbilirubinemia 142.[de.slideshare.net]
Soft Tissue Mass
  • Differential considerations include: Neurofibromatosis : There may be osseous changes in neurofibromatosis (bowing, pathologic fracture, and pseudarthrosis) in association with soft tissue masses.[roentgenrayreader.blogspot.com]
  • The patient presented with a soft tissue mass at the anteromedial mid part of the left thigh. After excision of the mass, three separate bone lesions were detected in her control MRI.[ncbi.nlm.nih.gov]
  • Sonography revealed a 51 46 48 mm oval hypoechoic soft-tissue mass within the deltoid muscle of the left arm. There was no involvement of the adjacent humerus.[ajronline.org]
  • (b) Histological examination of the soft tissue mass showing that spindle cells are loosely arranged within an abundant loosely myxoid matrix.[ijoonline.com]
  • The epiphyses are spared, and no periosteal reaction or associated soft-tissue mass are present.[radiopaedia.org]
Goiter
  • One of our patients (Patient 1) also had café-au-lait spots and multinodular goiter suggestive of McCune-Albright syndrome.[ncbi.nlm.nih.gov]
  • McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis[ncbi.nlm.nih.gov]
  • Fibrous dysplasia can also occur in the McCune–Albright syndrome, in which café-au-lait spots and endocrine disorders appear (nodular goiter, diabetes, early puberty and others) [ 4 ].[bmcendocrdisord.biomedcentral.com]
  • Parathyroid Pheo Medullary thyroid ca RET gene Pheo Medullary thyroid ca Neuromas "multiple hamartoma syndrome" AD, PTEN gene 10q Hamartomas in various organs -Skin: Trichilemmomas, Oral papillomatoses -Breast: FCCs, FAs (**risk of ca) -Thyroid: adenomas, goiter[cram.com]
Soft Tissue Swelling
  • On examination she was found to have tenderness of left femur with a separate soft tissue swelling within the thigh muscle.[ijem.in]
  • A plain x-ray of the right humerus showed a typical "ground-glass-like" lesion without obvious soft tissue swelling and periosteal reaction.[ijoonline.com]
  • Ultrasound: to evaluate patients with evidence of soft tissue swellings; may show ovarian cysts, thyroid nodules.[patient.info]
  • The soft-tissue swelling located in the musculus buccinator near the left mandibular measured 3 cm in diameter; the lesion exhibited no visible ulceration and no palpable tenderness ( Fig. 1 ).[spandidos-publications.com]
Leg Pain
  • Radiology Imaging Medical Imaging Medical Illustration Medical Conditions Low Back Case Study Spondylolisthesis Urinary Incontinence Leg Pain Forward The study demonstrates dural ectasia in a patient with know Other causes of dural ectasia include connective[pinterest.pt]
  • Critical Essential Core Tested Community Questions (2) Sorry, this question is for PEAK Premium Subscribers only (OBQ09.255) A 40-year-old male presents to your office with complaints of hip/leg pain for 6 months.[orthobullets.com]
  • She presents with left leg pain. Radiopharmaceutical: 20.0 mCi Tc-99m MDP, intravenously Findings: The whole-body delayed scintigram demonstrates several foci of abnormally increased radiopharmaceutical uptake in the left lower extremity.[gamma.wustl.edu]
Proximal Muscle Weakness
  • This gradually increased in size without weight loss or proximal muscle weakness. She did not have difficulty in walking and her activities of daily living were not affected by the pain.[ijem.in]
  • Lambert Eaton Myaesthenic syndrome (LEMS) Autoantibodies against presynaptic Ca 2 Channels in NMJ I. 60% cases syndrome (LEMS) paraneoplastic II. proximal muscle weak ness, weakness of Bulbar muscles 129.[de.slideshare.net]
Subcutaneous Nodule
  • Subcutaneous nodules are common. Maffucci syndrome : Enchondromatosis with soft-tissue hemangiomas. Lymphoma : Focal muscle involvement is rare. References Kransdorf MJ, Murphey MD. Diagnosis please. Case 12: Mazabraud syndrome.[roentgenrayreader.blogspot.com]
Ulcer
  • The soft-tissue swelling located in the musculus buccinator near the left mandibular measured 3 cm in diameter; the lesion exhibited no visible ulceration and no palpable tenderness ( Fig. 1 ).[spandidos-publications.com]
Urinary Incontinence
  • Radiology Imaging Medical Imaging Medical Illustration Medical Conditions Low Back Case Study Spondylolisthesis Urinary Incontinence Leg Pain Forward The study demonstrates dural ectasia in a patient with know Other causes of dural ectasia include connective[pinterest.pt]
Incontinence
  • Radiology Imaging Medical Imaging Medical Illustration Medical Conditions Low Back Case Study Spondylolisthesis Urinary Incontinence Leg Pain Forward The study demonstrates dural ectasia in a patient with know Other causes of dural ectasia include connective[pinterest.pt]
Cervical Enlargement

Workup

  • Clinical Testing and Workup Specialized imaging techniques may be used to evaluate bone. Such imaging techniques include computerized tomography (CT) scanning and magnetic resonance imaging (MRI).[rarediseases.org]
  • Diagnostic imaging modalities that may be considered include plain radiography, ultrasonography, computed tomography (CT), magnetic resonance imaging (MRI), and radionuclide bone scanning (as clinically indicated) (see Workup).[emedicine.medscape.com]
  • Clinical Testing and Workup A complete body survey should be performed for the characteristic cafe-au-lait spots, and x-ray studies should be combined with bone scans to evaluate the presence and extent of fibrous dysplasia.[rarediseases.org]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.de]
  • Available from: Section Letters to the Editors Most read articles by the same author(s) Alessio Biazzo, Carlo Cardile, Luca Brunelli, Paolo Ragni, Daniele Clementi, Early results for treatment of two- and three-part fractures of the proximal humerus using[mattioli1885journals.com]
  • Treatment of Mazabraud’s syndrome includes the specific treatment of the fibrous dysplasia when complications appear: pathological bone fractures treated using osteosynthesis, or when sarcoma transformation occurs, exceptionally, specific treatment for[bmcendocrdisord.biomedcentral.com]
  • These hamartomas tend to recur locally or symmetrically in the ipsilateral muscle groups and may reach enormous size without treatment.[ncbi.nlm.nih.gov]
  • Treatment is mainly conservative, surgical solution is indicated for prevention of pathological fractures or bone deformities. 1 article features images from this case[radiopaedia.org]

Prognosis

  • […] condition are those of fibrous dysplasia and of intramuscular myxomas, but also note: fibrous dysplasia is usually polyostotic monostotic has been reported 9 myxomas usually lower limbs and in close proximity to the bone disease right left Treatment and prognosis[radiopaedia.org]
  • TREATMENT AND PROGNOSIS • UNCOMPLICATED JAW CASES SIMPLE ENUCLEATION/CURETTAGE. • AGGRESSIVE LESIONS MORE EXTENSIVE SURGICAL RESECTION. • PROGNOSIS VERY GOOD • RECURRENCE RARELY ENCOUNTERED 18.[slideshare.net]
  • The prognosis is unfavorable as most of the cases are in an advanced stage at the time of diagnosis. Methods: This case was diagnosed at a large cancer center in Florida.[dovepress.com]
  • T1: heterogeneous signal, usually intermediate T2: heterogeneous signal, usually low, but may have regions of higher signal T1 C (Gd): heterogeneous contrast enhancement Treatment and prognosis Treatment is reserved for cases where function is being threatened[radiopaedia.org]
  • PROGNOSIS Fibrous dysplasia is generally considered a benign, pediatric disease, which usually becomes dormant by adulthood.[thefreelibrary.com]

Etiology

  • The disease has a predilection of women than men and the etiology is still unknown.[drtusharmehta.com]
  • The precise etiology of fibrous dysplasia in association with myxoma remains unclear.[spandidos-publications.com]
  • ETIOLOGY THE ETIOLOGY AND PATHOGENESIS OF COD ARE UNKNOWN. PERIODONTAL LIGAMENT ORIGIN. EXTRALIGAMENTARY BONE REMODELING MAY BE TRIGGERED BY LOCAL FACTORS AND POSSIBLY CORRELATED TO AN UNDERLYING HORMONAL IMBALANCE 65.[slideshare.net]
  • The underlying etiology accounting for this association is unknown. A review of the literature by Fujii et al. documents 26 reported cases. Of these 26 cases, 5 were monostotic fibrous dysplasia and 21 represented polyostotic fibrous dysplasia.[gamma.wustl.edu]

Epidemiology

  • Radiology Spotlight Pies Radios Medical Massage Tortillas Tarts Med School Forward Mounier-Kuhn syndrome is a somewhat controversial entity and used synonymously with tracheobronchomegaly by most authors Epidemiology Mounier-Kuhn syndrome is most frequently[pinterest.pt]
  • Epidemiology Second most prevalent skeletal disease after osteoporosis Sex : (1.2:1) Age of onset : 55 years References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. Pathophysiology PDB is an idiopathic disease.[amboss.com]
  • Refer to fibrous dysplasia article for a discussion of epidemiology.[radiopaedia.org]
  • Epidemiology This disorder is usually diagnosed in childhood or early adulthood. Usual presentation is in children and adolescents, with a median onset age of 8 years. Fibrous dysplasia makes about 5% of all benign bone tumors.[boneandspine.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology PDB is an idiopathic disease. PDB is associated with a high rate of bone remodeling.[amboss.com]
  • Pathophysiology Fibrous dysplasia is caused by the sporadic mutation of the GNAS1 gene. As a consequence of the mutation, there is a substitution of cysteine or histidine in amino acids of the osteoblastic cells, by arginine.[boneandspine.com]
  • The pathophysiology is unknown. If they are removed they often reappear, and their sarcomatous degeneration is rare (10). This is also the same for bone lesions.[dysplasie-fibreuse-des-os.info]
  • Pathophysiology, evaluation, and treatment. J Bone Joint Surg Am. 2005;87:1848-1864. Lietman SA, Ding C, Levine MA.[rarediseases.org]
  • J Bone Joint Surg 64:231 236 PubMed Google Scholar Caprio M di, Enneking W (2005) Fibrous dysplasia, pathophysiology, evaluation, and treatment. J Bone Joint Surg 87:1848 1864 CrossRef Google Scholar Dorfman H, Czerniak B (1998) Bone tumors.[springerlink.com]

Prevention

  • Treatment is mainly conservative, surgical solution is indicated for prevention of pathological fractures or bone deformities. 1 article features images from this case[radiopaedia.org]
  • Intamedullary fixation is recommended in cases of fibrous dysplasia for stabilization and deformity prevention.[boneandspine.com]
  • […] material was in a fibrous state, making inhalation more likely. (7) The palm oil and peanut used to marinate the leaves provide a nice touch without overpowering the fibrous greens. (8) Thatch is a layer of fibrous material, which if it becomes too deep, prevents[romanian.english-dictionary.help]
  • Treatment [ edit ] Treatment in fibrous dysplasia is mainly palliative, and is focused on managing fractures and preventing deformity. There are no medications capable of altering the disease course.[en.wikipedia.org]
  • If bone involvement is extensive, the surgeon must be ready to bypass bone defects with long-stemmed femoral components to prevent a stress riser effect at the tip of the stem in areas of weak bone.[healio.com]

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