Paget's disease of the breast in a woman with neurofibromatosis

Paget's disease of the breast is a rare and specific type of breast carcinoma in the nipple or areola. On the other hand, neurofibromatosis (NF) is also a rare neurocutaneous disease, which is inherited and affects mainly the skin and the nervous system. In addition, NF is rarely associated with malignant tumors. We present a case of Paget's disease concomitant with NF type 1 in a 66-year-old woman.     

Paget's disease of bone

Paget's disease of bone is one of the most common diseases to affect bone, yet it is rare before the age of 50. The etiology of the condition remains unproven. Paget's disease of bone has become less common, less severe, and less extensive in recent decades. Isotope bone scans and radiographs remain the most frequent radiological investigations, demonstrating the extent of the disease and characteristic appearances in most cases. Recent changes in the radiological investigation of Paget's disease include increasing use of computed tomography (CT) and magnetic resonance (MR) imaging for the evaluation of less typical disease or disease complications; the incidental finding of Paget's disease on CT or MR requires recognition to avoid inappropriate investigation. The presence of sclerotic Paget's disease in the lumbar spine or hip may elevate bone mineral density measurements at these sites, with consequent potential to underestimate fracture risk. Awareness of the normal level-to-level vertebral variation in bone density in the spine, and careful assessment of the images acquired on dual energy X ray absorptiometry or quantitative CT will help to avoid this pitfall. Examples of these investigations and the combination of Paget's disease with other conditions such as osteoarthritis, metastatic bone disease, and bone infection are illustrated.     

Paget's disease of bone in Africans

Fourteen cases of Paget's disease of bone seen in an African community over a 4-year period are reported. During a comparable 4-year period, no case of Paget's disease was seen in a busy radiology department of a teaching hospital in Nigeria. It is suggested that Paget's disease of bone may not be uncommon in some African communities and that the striking geographical variation in the incidence of this disease in Europe, America and elsewhere is applicable to Africa also.     

MRI of Paget's disease of bone

Paget's disease is a relatively common condition in the elderly population and is not uncommonly seen as an incidental finding on imaging studies, including magnetic resonance imaging (MRI). It is important, therefore, for the radiologist to be aware of the MRI manifestations of the condition, so as not to mistake it for more sinister pathology. MRI can also be used to investigate the various complications of Paget's disease, particularly sarcomatous degeneration. This review describes the appearances of uncomplicated Paget's disease during its different pathological stages and in the setting of its various complications.     

Paget's disease of bone in South Africa

A survey of Paget's disease of bone in Johannesburg South Africa, has revealed a prevalence of 2.4% in whites aged 55 years and over, which is similar to some centres in Europe; it has also revealed an unexpectedly high prevalence of 1.3% among blacks. These findings are discussed in relation to recent concepts of the pathogenesis of Paget's disease.     

Paget's disease of bone mimicking metastases

Seven patients with Paget's disease, mimicking the radiographic appearance of metastatic disease, are illustrated. This disorder may simulate metastases if the simultaneous processes of bone resorption and new bone formation are not apparent, especially if there is no evidence of bone enlargement. Additional confusion may arise if the lesion is monostotic, has an unusual location, or occurs in a patient with known or suspected malignant disease.     

Osteosarcoma manifesting as Paget's bone disease

Osteosarcoma is a malignant bone tumour of mesenchymal osteoid tissue origin. Osteosarcoma can be primitive, but it may also complicated a Paget's disease of bone. We described a 75yearold man with a right thigh mass discovered after a motoring accident. Histopathologic examination revealed the diagnosis of osteosarcoma. Plain film Xrays showed Paget's lesion of the right pelvis bone. CT and MRI allowed complete evaluation of this lesion. Final diagnosis was those of malignant transformation of Paget disease. The patient was refused for surgery in view of the size of the tumour and chimiotherapy followed.     

Bone marrow scintigraphy in Paget's disease of bone

Sixteen patients with 20 lesions of Paget's disease of bone were studied with bone marrow scintigraphy (colloid), bone tissue scintigraphy and radiography. Bone marrow scintigraphy showed normal or increased colloid uptake in 15 of 20 pagetic lesions, and decreased uptake in 4. Bone tissue scintigraphy showed increased metabolic activity in all lesions and was useful in detecting polyostotic disease as well as the extent of the lesions. Conventional radiography most often showed the typical appearance of Paget's disease, but the changes observed were sometimes difficult to differentiate from malignant disease. However, a preserved or increased reticuloendothelial function in the pagetic lesion contradicts metastatic disease as a differential diagnosis. Bone marrow scintigraphy with radiocolloid is a valuable method in the analysis of Paget's disease of bone.     

Extramedullary hematopoiesis in Paget's disease of bone.

Two cases of Paget's disease of bone with radiographic manifestation of extramedullary hematopoiesis are described. While extramedullary hematopoiesis usually occurs as compensatory phenomenon in response to anemia, this was not the case in our patients. We believe pathologic fractures led to extrusion of hematopoietic marrow and resultant tumorous extramedullary hematopoiesis.     

Correlation of multimodality imaging in Paget's disease of bone

PURPOSE: The aim of this study is double: 1. to review the known and less known radiographic patterns of Paget's disease of bone, employing the most recent imaging techniques; 2. to propose a rationale algorithm for the diagnosis and management of the disease. considering its inconsistency and clinical variability. MATERIALS AND METHODS: Forty-eight patients with Paget's disease of bone (30 males and 18 females, aged 45 and 88 years, mean age 71) were examined in the period 1999-2003. The patients were classified into two groups: symptomatic and asymptomatic. The first group, comprising 32 patients with generic 'low back pain' with or without sciatica, or 'coxarthritis' underwent conventional radiography. In the second group (16 patients), bone disease was discovered in course of radiological and/or scintigraphic examinations performed for other conditions. Subsequently, all the patients completed the diagnostic algorithm, consisting of radiographs of the remaining skeletal areas and those segments with abnormal scintigraphic uptake. RESULTS: Monostotic Paget's disease was observed in 31 cases (64.6%), of whom 20 males (64.6%) and 11 females (35.4%), whereas polyostotic disease was found in 17 cases (35.4%), of whom 10 males (58.8%) and 7 females (41.2%). The sites most frequently affected in the monostotic form were: pelvis, 13 cases (43.3%); femur, 5 cases (16.7%); lumbar spine, 5 cases (16.7%); humerus, 2 cases (6.7%); tibia, 2 cases (6.7%); dorsal spine, skull, radius, patella, 1 case respectively (3.3%). In the polyostotic disease (17 cases), the affected bones were predominantly the skull, vertebral spine and pelvis (see text for their variable association). Pathologic fractures of the femur were found in two males. Osteogenic sarcoma (histological diagnosis) developed in the proximal femur in a 81 year-old male. CONCLUSIONS: Paget's disease is asymptomatic in the majority of affected individuals, and may be discovered incidentally with diagnosis being made on routine radiographs obtained for other purposes. Sometimes the x-ray features are so typical that the diagnosis is straightforward. Bone scan should be the imaging technique of choice, because tracer uptake is directly related to degree of activity of disease, and it may advance any radiographic evidence. Vertebral involvement is better evaluated by CT. Both CT and MRI are recommended in spine complications (pathological fractures, radicular or cord compression syndromes, malignant degeneration).     

Spect bone scintigraphy in assessment of cranial Paget's disease

Single photon emission computed tomography (SPECT) bone scintigraphy was used in the assessment of Paget's disease in 3 patients with skull involvement. In comparison with conventional scintigraphy, SPECT improved the three-dimensional perception and made precise outlining of involved bones possible. The radionuclide uptake in lesions expressed as counts per pixel was 1.5 to 10 times that of normal bones. Routine use of SPECT in cranial Paget's disease for staging and monitoring the effect of treatment is proposed.     

The scintigraphic findings in Paget's disease of bone.

Bone scans and radiographic skeletal surveys have been done in 41 patients who had Paget's disease. The scintigraphic findings are consistent with what is known of the pathophysiology of Paget's disease. Diseased bone demonstrates increased vascularity, an increased degree of uptake of bone-seeking radiotracers and, in appropriate bones, evidence of marrow replacement. The bone scintiscan is a more sensitive indicator of the extent of polyostotic Paget's disease than conventional radiograph, demonstrating 34% more lesions. Because it reflects shorter term changes in osteoblastic activity the bone scan is of some value in providing immediate objective evidence of the therapeutic effectiveness of Mithramycin which has been used in this study in the treatment of the minority of patients with pain in Pagetoid bone. A technique for documenting alterations in uptake by diseased bone numerically is presented. Upon treatment with Mithramycin the ratio of abnormal uptake in relation to normal bone fell from 8.7 to 3.9.     

Quantitative bone scintigraphy in Paget's disease treated with APD

Half-yearly bone scintigrams of 27 patients with Paget's disease, who were treated with the bisphosphonate APD, were evaluated. Uptake of 99Tcm-Sn-EHDP was determined by computer analysis. All patients reached clinical and biochemical remission, usually within 6 months. The scintigraphic uptake dropped steeply during the first 6 months and only slightly during the second 6 months. The decrease in uptake was proportional to the original uptake and averaged 80% of this value. The residual 20% persisted, although clinical and biochemical remission were attained. The scintigraphic results obtained with APD agree with our earlier findings for patients in remission after treatment with a combination of calcitonin and EHDP. Eight patients suffered a recurrence after discontinuation of APD. In all cases scintigraphic deterioration also occurred, usually simultaneously or 6 months before the recurrence. In two patients with scintigraphic deterioration a recurrence could not be confirmed during this study. The scintigraphic deterioration presented as one of the three patterns seen after combination therapy.     

Digital subtraction angiography demonstration of bone hypervascularity in Paget's disease

Bone hypervascularity is a well-known component of Paget's disease, but has not been previously reported on digital subtraction angiography. The features shown in the present case include sustained bone enhancement and early venous filling.