Patchy Sclerosis Research Articles

Teen With Acute Shoulder Pain Four Years After A Car Accident.

HISTORY: 18yo male with sudden onset, severe right shoulder pain occurring while sitting in class 11 days prior to presentation. He had a history of a posterior shoulder dislocation at age 14 in a car accident, requiring relocation under sedation without known complication. He completed PT at that time, however was unable to return to football or overhead throwing activities. At the start of his new onset pain, he suspected re-dislocation of his shoulder and went to the ED. X-rays were abnormal but with unclear diagnosis. He was referred to sports medicine clinic for further evaluation and treatment. PHYSICAL EXAMINATION: Inspection: Significant atrophy of the supraspinatus and infraspinatus. Right shoulder was held elevated. Intertrigo noted in right axilla. Range of motion of the shoulder: 20 degrees forward flexion, 20 degrees forward flexion, 0 degrees external rotation, and internal rotation to T12. Strength: 4/5 empty can, 4/5 internal rotation, 3+/5 external rotation. Neurovascular: Brisk pulses, 2 second capillary refill, intact motor exam, and sensation intact in all dermatomes. Special tests: Neer’s positive pain with no increased ROM, Speed’s test positive, O’Brien’s test positive, cross over test negative, and Hawkin’s positive. DIFFERENTIAL DIAGNOSIS: Recurrent shoulder dislocationMalignant or benign bony lesionPathologic fracture of proximal humerusRotator cuff tearDisruption of suprascapular nerve TEST AND RESULTS: X-rays of the right shoulder:- Patchy sclerosis and irregular shape of the humeral head. - Decreased joint space of the glenohumeral joint and elevation of the humeral head.- Hill-Sachs deformity with small adjacent osseous fragment. - Curvilinear osseous density superior to the humeral head - likely calcification of the rotator cuff or loose body. MRI with and without contrastiv> FINAL WORKING DIAGNOSIS: Osteonecrosis of the humeral head TREATMENT AND OUTCOMES: Referred to orthopedic shoulder specialist who plans to do a hemiarthroplasty without a stem. Surgery is planned for December 1, 2017. Follow-up will be available by May 2018.

Clinical characteristics and prognoses of six patients with multicentric giant cell tumor of the bone.

Multicentric giant cell tumor of the bone (MGCT) is a rare entity whose radiographic, pathological and biological features remain confusing. We retrospectively reviewed six patients (1 male, 5 female; average age, 22.33 years) treated for confirmed MGCT between 2001 and 2015. The patients' clinical information, images from radiographs (n = 14), CT (n = 13), MRI (n = 8), bone scintigraphy (n = 1) and PET-CT (n = 2), as well as histologic features, treatment and prognosis were analyzed. A total of 17 lesions were detected: 4 around the knee joint, 3 in the greater trochanter and head of the femur, 5 in the small bones of the feet, and 2 in flat bones. All these lesions occurred in an ipsilateral extremity. One patient had Paget's disease. On radiographs and CT, 12 lesions exhibited sclerotic margins or patchy sclerosis, 8 showed cortical discontinuity, and 5 showed soft tissue masses. On histopathology, 8 lesions showed signs of sarcomatous transformation and one had transformed into osteosarcoma. Ten lesions in 4 patients were initially treated with surgery, and 3 showed local recurrence. Seven lesions in 3 patients were treated with denosumab. All the patients are currently stable without metastasis. These results suggest MGCT tends to occur in uncommon sites with sclerosis. Because these lesions can be aggressive, patients should be carefully monitored for the recurrence or formation of other lesions, especially in an ipsilateral extremity.

Atypical vertebral Paget’s disease

A 40-year-old Mauritanian man consulted for back pain. A computed tomography of the spine showed patchy sclerosis of the fifth and seventh thoracic vertebral bodies with normal neural arch of T5 and sclerosis and hypertrophy of the neural arch of T7, as well as diffuse sclerosis of the T11 vertebral body with a normal neural arch. At MRI, low signal-intensity on T1-weighted images and high signal-intensity on T2-weighted images involved the whole T5 and T7 vertebrae and the vertebral body of T11. Working diagnoses included metastatic disease and lymphoma, and a biopsy of T7 and then T11 was carried out. Both showed pathological findings very suggestive of Paget's disease. Since CT is usually the more specific radiological examination in vertebral Paget's disease, we thought it could be useful to report this atypical CT presentation (patchy sclerosis of the vertebral body without diffuse bone texture changes and isolated involvement of the vertebral body) of vertebral Paget's disease.

An uncommon cause of headache and hearing loss

Imaging demonstrated diffuse thickening of the skull with illdefined patchy sclerosis on skull X-ray. CT and MRI demonstrated diffuse textural abnormality of the calvarium and skull base suggestive of fibrous dysplasia or Paget’s disease. Bilateral narrowing of the internal auditory canals was also identified (Fig. 1), as was basilar invagination. Baseline bloods were performed with a markedly elevated ALP (2000 IU/L). A biopsy was performed of the skull, which demonstrated lamellar bone with irregular curliform cement lines with evidence of active bone resorption and bone remodelling. Additionally the marrow demonstrated increased fibrosis. These findings were consistent with Paget’s disease of bone. The patient was referred to an endocrinologist and commenced on the biphosphonate zoledronic acid, initially intravenously and later orally with good effect. Paget’s disease of bone is a chronic inflammatory disease of the bone affecting 1 to 2% of the population. This condition was first described in 1877 by Sir James Paget. Although most patients are asymptomatic, in 10–30% it is characterised by pain, skeletal deformity, pathological fractures and high-output congestive cardiac failure. Most patients affected are over 50 years of age and there is a slight male predominance. Paget’s disease can affect any bone but is more likely to affect the axial skeleton (spine, pelvis, femur, sacrum and skull). The aetiology of this condition remains unknown, however some literature suggests involvement of paramyxovirus infection and a genetic predisposition to the condition. Paget’s disease of the skull has been reported to cause headache, abnormal skull enlargement, deformity, and hearing loss (due to compression of the 8th cranial nerve). Additional neurological deficits associated with cranial nerve compression have also been reported. There have been a number of reports of extradural haematoma and it has been postulated that this may be partly due to the increased vascularity of bone affected by Paget’s disease.

18 F-FDG avid lesion due to coexistent fibrous dysplasia in a child of embryonal rhabdomyosarcoma: Source of false positive FDG-PET

With increasing use of 18 F-fluorodeoxyglucose (FDG)-positron emission tomography (PET) in the current oncological practice, there is a growing body of evidence of false positive scans due to various benign conditions. In this communication we present intensely avid 18 F-FDG uptake in fibrous dysplasia of right tibia in a 12-year-old child suffering from embryonal rhabdomyosarcoma (ERMS) that could have been easily mistaken to be a metastatic focus if not carefully correlated. The patient was a case of ERMS (presenting with left cervical mass with intrathoracic extension) who was treated successfully with chemotherapy and was referred for FDG-PET to evaluate the disease status. His whole body survey was unremarkable except for an intensely avid FDG uptake (SUV max 8.5) in shaft of right tibia. The scan was extended up to foot in view of the fact that a prior bone scan had shown a focal uptake in the similar location. Efforts were undertaken to elucidate the exact etiopathology of the aforementioned 18 F-FDG uptake because the rest of the whole body survey was unremarkable. A plain radiograph (both anteroposterior and lateral views) of the right tibia showed patchy sclerosis involving the middle diaphysis of the right tibia suggesting a fibrous defect. The computed tomography (CT) scan of the same region showed cortical thickening and increased density within the medullary cavity in the shaft of the tibia. A histopathological diagnosis was sought for and the lesion was subsequently proven to be fibrous dysplasia by histopathology of the bone piece obtained from the right tibial lesion by J needle biopsy. The present case is a useful addition to the current body of literature of false positive 18 F-FDG-PET study due to a benign skeletal pathology and underscores the importance of high index of suspicion and careful clinicoradiopathologic correlation, whenever one comes across such an unusual PET finding.

Idiopathic Equinocavovarus Foot Deformity in an 8-year-old Girl

Idiopathic Equinocavovarus Foot Deformity in an 8-year-old Girl

Manifestations in a family with autosomal dominant bone fragility and limb‐girdle myopathy

We report on an unusual family with an autosomal dominant limb-girdle type of myopathy and bone fragility. This family was previously reported by Henry et al. [1958] as autosomal dominant progressive limb girdle "muscular dystrophy" with propensity to fractures and defective healing of long bones. Clinical, biochemical, and radiological aspects were evaluated in eight living relatives in this family (three males and five females) and in eight deceased individuals. The average age-of-onset of the limb-girdle myopathy was 31 years occurring in 87% of affected individuals. The average age of onset of fractures was 24 years occurring in 88% of affected individuals. Biochemical analysis showed a mean alkaline phosphatase (ALP) of 64 U/L (normal 30-120) and borderline high creatine kinase (CK) of 213 U/L (normal 4-220). Radiographs revealed coarse trabeculation, patchy sclerosis, cortical thickening, and narrowing of the medullary cavity with an appearance not considered typical of Paget disease of bone (PDB) or of fibrous dysplasia. Results of nerve conduction studies were normal, and electromyograms and muscle biopsies documented non-specific myopathic changes. There is premature graying with thin hair, thin skin, hernias and the affected individuals appear older than their chronological age, and three members had a clotting disorder. Linkage analysis for markers for the chromosome 9p22.3-q12 locus indicated that the disorder in this family does not segregate with markers in the critical region of limb-girdle/inclusion body myopathy, PDB, and frontotemporal dementia (FTD) [IBMPFD, OMIM #605382]. Sequencing of Valosin-containing protein (VCP), the gene associated with IBMPFD, did not identify mutations. We have excluded linkage to the known loci for limb-girdle type of myopathy and bone disease and excluded several candidate genes. Elucidation of the novel molecular basis of this disorder may provide valuable links between bone, collagen and muscle, and targeted therapeutic options.

Mapping autosomal dominant progressive limb-girdle myopathy with bone fragility to chromosome 9p21-p22: a novel locus for a musculoskeletal syndrome

Progressive myopathy of a limb-girdle distribution and bone fragility is a rare autosomal dominant disorder of unknown etiology. Affected individuals, within this family, present with various combinations of progressive muscle weakness, easy fracturing, and poor healing of long bones. Additional features include premature graying with thin hair, thin skin, hernias, and clotting disorders. Electromyograms show myopathic changes and biopsies reveal non-specific myopathic changes. Skeletal radiographs demonstrate coarse trabeculation, patchy sclerosis, cortical thickening, and narrowing of medullary cavities. We report genetic mapping of this disorder to chromosome 9p21-p22 in a multigenerational family. A genome-wide scan for the disease locus obtained a maximal LOD score of 3.74 for marker GATA87E02 N (D9S1121). Haplotype analysis localized the disease gene within a 15 Mb interval flanked by markers AGAT142P and GATA5E06P. This region also localizes diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Identification of the disease gene will be necessary to understand the pathogenesis of this complex disorder.

Juvenile mandibular chronic osteomyelitis: a distinct clinical entity

<h2>Abstract</h2> Sclerosing osteomyelitis of the mandible is an uncommon disease of unknown aetiology. A series of eight female children (6 to 12 years old) with a distinct mandibular inflammatory disease were studied. Each presented with pain and a recurrent soft tissue swelling overlying a predominantly unilateral mandibular enlargement. On imaging, this deformity demonstrated a mixture of patchy sclerosis and radiolucency. A raised erythrocyte sedimentation rate was the only consistent serological finding. Treatment varied from symptomatic control with non-steroidal anti-inflammatory medication, to surgical management that included decortication and contouring and, in one case, resection with reconstruction. A potential protocol for treatment of this disease is given. The early age of onset of the disease process and the uniformity of the features distinguish this condition from other groups of disorders that, previously, have been collectively designated as chronic diffuse sclerosing osteomyelitis. It is proposed that this inflammatory disease of mandibular bone, in the paediatric patient, should be regarded as a separate clinical entity: ‘juvenile mandibular chronic osteomyelitis'.

Juvenile mandibular chronic osteomyelitis: a distinct clinical entity

Sclerosing osteomyelitis of the mandible is an uncommon disease of unknown aetiology. A series of eight female children (6 to 12 years old) with a distinct mandibular inflammatory disease were studied. Each presented with pain and a recurrent soft tissue swelling overlying a predominantly unilateral mandibular enlargement. On imaging, this deformity demonstrated a mixture of patchy sclerosis and radiolucency. A raised erythrocyte sedimentation rate was the only consistent serological finding. Treatment varied from symptomatic control with non-steroidal anti-inflammatory medication, to surgical management that included decortication and contouring and, in one case, resection with reconstruction. A potential protocol for treatment of this disease is given. The early age of onset of the disease process and the uniformity of the features distinguish this condition from other groups of disorders that, previously, have been collectively designated as chronic diffuse sclerosing osteomyelitis. It is proposed that this inflammatory disease of mandibular bone, in the paediatric patient, should be regarded as a separate clinical entity: ‘juvenile mandibular chronic osteomyelitis’.

Osteomesopyknosis: A benign familial disorder of bone

A family with osteomesopyknosis is described. This condition is a rare benign bone dysplasia, characterized by patchy sclerosis predominantly involving the axial skeleton. The radiographic appearances may be confused with osteoblastic metastases, renal bone disease and other sclerosing bone disorders. As routine blood tests and isotope bone scans are normal in osteomesopyknosis, differentiation is readily achieved.

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Two cases of melorheostosis were presented. In case 1 (8 months, boy), painless contracture and deformity of the right middle finger were the initial findings. Roentgenograms showed patchy sclerotic changes in the right upper extremity (the humerus, radius, ulna, carpi, metacarpi and pharanges). Eight years later, follow-up study indicated ranges of motion of the involved joints progressively decreased and noticeable sclerotic linear streaks which were corresponded to the C5, 6, 7 and 8 segments of a sclerotome.Another case was an 11-year-old boy who complained of painless deformity of the left second toe. X-ray examinations revealed patchy sclerosis on the left lower extremity (the acetabulum, femur, tibia, fibula, tarsi and first and second digits rays). These bony changes were corresponded to the L3, 4, 5 and 51 segments of a sclerotome.Segmental distribution of linear hyperostosis implies damages to segments of the neural crest during embryogenesis. In both cases bone scintigrams with 99mTc-MDP disclosed increased uptake in radiologically abnormal areas. These bony lesions are considered metabolically active.

Radiographic development of skeletal lesions in man many years after acquistion of radium burden.

The present permissible occupational levels for the bone-seeking radionuclides are tied to that for 226Ra, which has served for several decades as the prime standard. To establish these permissible levels and that of 226Ra at certain points, observable effects have been related to carefully determined body content of the radionuclide under consideration. This has been done by many investigators with various species of experimental animals for many of the bone-seeking radionuclides, and a scale of relative radiotoxicities has been derived. The experimental approach is not possible in man. However, for the case of 226Ra effects in man we have attempted to derive as much information as possible from a rather large group of persons in midwestern United States who acquired a body burden of 226Ra approximately forty years ago. From these data we have related 226Ra body content to the incidence of skeletal and other rare tumors arising in the tissues lining the mastoids, paranasal sinuses, and oral cavity on the one hand, and to other radiographically observable destructive bone changes on the other. Clinical Material and Method of Study For the past twenty years a joint study of more than 400 persons bearing a detectable body burden of 226Ra has been under way at the Argonne National Laboratory and the Argonne Cancer Research Hospital. Most of these persons were radium dial painters in the Illinois River Valley region during 1920–1940; others received radium chloride intravenously or orally as a medicament between 1920 and 1933. Of the latter, members of a unique group of 41 patients were treated for mental illness in a state hospital in Illinois during 1931–1933 with a series of intravenous injections of radium chloride (1). Twenty-two of these mental patients have had skeletal radiographic studies along with determinations of radium burdens by gamma ray spectrometry, and 11 of these 22 have had these studies repeated almost every two years since the study began in 1951. In addition, 34 other patients who received radium as a medicament and 219 former radium dial painters have had partial or complete skeletal radiographic surveys and radium body determinations done on at least one occasion. The radiographic lesions appearing in these radium-bearing patients have been described by our group (2, 3) and others working in the field (4, 5). Such findings include coarsening of the trabecular pattern, localized areas of bone resorption, patchy sclerosis, small and large bone infarcts, aseptic necrosis, and pathological fractures of bone in addition to the aforementioned malignant tumors. A method for numerically scoring the radiographic lesions according to increasing severity was devised by our group, and with some modifications was adopted by the other radium study group at the Massachusetts Institute of Technology.

THE CLINICAL SIGNIFICANCE OF SLIGHT NOTCHING OF THE R-WAVE OF THE ELECTROCARDIOGRAM

As a result of extensive electrocardiographic studies in past years, the questions of the more common disturbances of the cardiac mechanism have for the time being been settled, and numerous investigators have directed efforts to the elicitation of electrocardiographic evidences of myocardial involvement. Carter1has summarized the knowledge of the aberrant beat and the electrocardiogram associated with a lesion of either branch of the atrioventricular bundle. The ventricular complex is said to be characterized by a notched or bizzare R-wave of high amplitude, a QRS interval exceeding 0.10 second and an exaggerated T-wave usually opposite to the initial deflection. Such curves are indicative of an extensive pathologic process and imply a grave prognosis. Oppenheimer and Rothschild2have described intraventricular or arborization block. The underlying pathology of their cases was coronary sclerosis or disseminated patchy sclerosis of the myocardium predominate in the Purkinje network. The electrical curves are of low voltage