Hemarthrosis: an unusual complication of type 1 neurofibromatosis.

Type 1 neurofibromatosis is one of the most common autosomal-dominant disorders and often includes orthopedic manifestations. We report the case of a 48-year-old woman with hemarthrosis caused by a popliteal cyst infiltrated by a diffuse neurofibroma associated with angiodysplasia. Surgical resection of this tumor was followed by postoperative hemorrhagic complications.

Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients.

OBJECTIVE: To identify potential prognostic factors and criteria for early detection of malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1 (NF1). DESIGN: Retrospective study of malignant peripheral nerve sheath tumors in a cohort of 395 patients with NF1 followed up between October 1, 1988, and January 1, 1999; review of the clinical and histological characteristics of treatment and course; and analysis of p53 mutations and overexpression in tumors. SETTING: Teaching hospital referral neurofibromatosis center for adults. PATIENTS: Seventeen patients with NF1 (9 males and 8 females). Mean +/- SD patient age at diagnosis was 32 +/- 14 years. MAIN OUTCOME MEASURES: (1) Clinical symptoms, (2) comparison of p53 mutations and overexpression in benign vs malignant tumors; and (3) median survival. RESULTS: Twelve patients had high-grade tumors. All tumors except 1 developed on preexisting nodular or plexiform neurofibromas. Pain and enlarging mass were the first and predominant signs. None of the benign tumors displayed significant p53 staining or p53 mutations. Six of 12 malignant tumors significantly overexpressed p53, and 4 of 6 harbored p53 missense mutations. Median survival was 18 months overall, 53 months in peripheral locations, and 21 months in axial locations. CONCLUSIONS: Malignant peripheral nerve sheath tumors are highly aggressive in NF1. They mostly arise from plexiform or nodular neurofibromas. Investigations and deep biopsy of painful and enlarging nodular or plexiform neurofibromas should be considered in patients with NF1. Late appearance of p53 mutations and overexpression precludes their use as predictive markers of malignant transformation.

Immunohistological study of entheses in spondyloarthropathies: comparison in rheumatoid arthritis and osteoarthritis.

OBJECTIVE: To determine which inflammatory cell types are present in entheses from patients with spondyloarthropathy (SpA) compared with patients with rheumatoid arthritis (RA) or osteoarthritis (OA). METHODS: Enthesis specimens were obtained during orthopaedic procedures in eight patients with SpA, four with RA, and three with OA. After decalcification, the lymphocyte subsets (CD3, CD4, CD8, CD20) in the bone marrow component of each enthesis were measured by an immunohistochemical technique. RESULTS: Oedema and an inflammatory infiltrate were present in all the SpA specimens, being clearly predominant in the bone marrow component of the entheses. The density of all cell types in the bone marrow was significantly higher in the SpA group than in the two other groups. The cell type CD3+ showed the greatest difference between the SpA and RA groups, being increased fivefold in the SpA group. Within the SpA group, CD3+ cells were considerably more numerous than CD20+ cells-a difference from the RA group-and the predominant T cells were CD8+. CONCLUSION: Persistent oedema with an inflammatory infiltrate composed predominantly of CD8+ cells was noted in the entheses of patients with SpA, being predominant in the bone marrow. These results suggest that CD8+ cells may have a key role in local inflammation in SpAs.

Radiation-induced bone sarcoma following total body irradiation: role of additional radiation on localized areas.

A 44-year-old patient who had had acute monoblastic leukemia developed an osteosarcoma of the pelvic bones 5 years after an allogeneic bone marrow transplant from his HLA-identical sister. He had additionally received superficial cutaneous radiation of the legs and pelvis, over the 3 weeks prior to total body irradiation (TBI), because of cutaneous leukemic lesions. The tumor was a fibrohistiocytomatous osteogenic sarcoma. The first lesion was in the right ilium, and a second lesion appeared 18 months later, symmetrically on the left ilium. Despite treatment, the patient died from metastases. At the time of diagnosis of radiation-induced sarcoma, the patient was free of leukemia and had several risk factors already reported to favor the development of solid tumors in stem cell recipients. These include acute leukemia, TBI and graft-versus-host disease. As he developed symmetrical lesions of the pelvic bone, and because of the histology of the radiation-induced tumor, we assumed that the additional radiation of the skin prior to TBI may have contributed to the pathogenesis of this malignant fibrous histiocytoma. Therefore, the risk/benefit ratio should be carefully considered in unusual indications. These patients should benefit from a close follow-up of the superimposed areas.

Poor eight-year survival of cemented zirconia-polyethylene total hip replacements.

Between January 1988 and January 1991 we performed 100 consecutive cemented total hip replacements using a zirconia head, a titanium alloy stem and a polyethylene cup. We reviewed 78 of these hips in 61 patients in detail at a mean of 5.8 years (1 to 9). Aseptic loosening was seen in 11 hips (14%). Eight needed revision. In total, 37 cups (47.5%) showed radiolucent lines, all at the cement-bone interface, with 18 (23%) involving all the interface. Of the 78 femoral implants, 17 (21.7%) showed radiolucent lines, and two, which had a complete line of more than 1 mm thick, definite endocortical osteolyses. There was also an abnormally high incidence of osteolysis of more than 2 mm at the calcar. Survivorship analysis showed that only 63% were in situ at eight years. These worrying results led us to abandon the use of zirconia heads, since at the same hospital, using the same femoral stem, cement and polyethylene cup, but with alumina femoral heads, the survival rate was 93% at nine years. We discuss the possible reasons for the poor performance of zirconia ceramic.

Labial salivary gland biopsy for diagnosis of amyloid polyneuropathy.

Biopsies of peroneal nerve and labial salivary gland (LSG) were performed in 32 patients with polyneuropathy of unknown origin. Amyloid deposits were detected in 7 LSG (transthyretin=5; amyloid, light chain derived=2) and 6 nerve biopsies. Familial amyloid and light chain amyloid polyneuropathies were subsequently confirmed by relevant tests. We propose that LSG biopsy, a minimally invasive test that may document both sicca syndrome and amyloidosis, should be systematically performed in the investigation of patients with axonal polyneuropathies.

[Pigmented nodular tenosynovitis. A misdiagnosed etiology of isolated tumefaction of fingers or toes]. / Ténosynovite nodulaire hémopigmentée. Une étiologie méconnue de tuméfaction isolée des doigts et des orteils.

BACKGROUND: Pigmented nodular tenosynovitis (more commonly called giant cell tumor) is a benign tumor of synovial joint or tendon sheaths. CASE REPORT: A 17-year-old girl had a tumefaction of the first toe. The mass was firm and painless and had been present for one year. Radiological studies revealed a cystic area of the first phalanx. Magnetic resonance imaging demonstrated a poorly vascularized tissular lesion. Surgical excision of the tumor was performed. Macroscopic and histologic findings confirmed the diagnosis of pigmented nodular tenosynovitis. DISCUSSION: Clinical and radiological aspects of nodular tenosynovitis are characteristic. This diagnosis should be made by dermatologists. Eighty percent of cases occur in fingers and more rarely in toes. Patients are usually females (60 p. 100). A subcutaneous mass is the most common presenting sign whereas pain or joint swelling are rare. Optimal treatment is surgical resection. The only risk is recurrence (20 p. 100).

Unusual CD3+, CD4+ large granular lymphocyte expansion associated with a solid tumor.

Large granular lymphocyte proliferation has been reported in association with rheumatoid arthritis. We report an unusual association between a pleural mesothelioma and an unusual form of large granular proliferation of CD3+, CD4+, CD8-, CD56+ cells. This case sheds light on the possible causal relationship between these 3 conditions.

Prognostic factors in patients with localized Ewing's sarcoma: the effect on survival of actual received drug dose intensity and of histologic response to induction therapy.

To bring to the fore the most important prognostic factors in Ewing's sarcoma (ES) with current protocols, we studied the classical prognostic factors, dose intensity (DI) of actual received drugs, age and histological response to induction therapy and their correlation in 39 patients with localized ES treated from 11/85 to 06/95 to identify eventual predictors of event-free survival (EFS). Inclusion criteria were age 35 yr or less, definitive local treatment by our team and chemotherapy including at least 4 drugs: vincristine (VCR), dactinomycin (DACT), doxorubicin (DOXO) cyclophosphamide (CPX). The endpoint was the absence of relapse. Parameters related to the status of patients were tested using the Chi square test or Fisher's exact test. The non parametric Kruskal-Wallis test was used for quantitative data. When necessary stratified analysis was done using the Mantel Cox test. With a median follow-up of 7 yr, overall survival (OS) and EFS were both 67% at 7 yr. According to univariate analysis, the significant predictors of survival were the DI of VCR and DACT, the histological response to preoperative chemotherapy (CT), the patient's age (< 18 yr DFS: 84%; > 18 yr DFS: 38%). The risk of metastases was almost tenfold higher in patients with low received DI of VCR (DFS 40% versus 95%) and of DACT (DFS 48% versus 94%). The prognostic value of primary tumor characteristics (tumoral volume or location) was erased by the comprehensive treatment. Following multivariate analysis, the actual received DI of VCR (p < 0.02) and DACT (p < 0.03) and the histological response to preoperative CT (p < 0.05) were retained as the only significant independent predictors of EFS. Taking into account the actual received DI of VCR and DACT, the prognostic value of age disappears. In conclusion, this study points out the main role of the drug DI in ES (particularly VCR and DACT) and of histological response to preoperative CT.

[Primary hyperparathyroidism. Optimization of surgical results with systematic preoperative 99mTc-Sestamibi scintigraphy]. / Hyperparathyroïdie primaire. Optimisation des résultats chirurgicaux par la scintigraphie au 99mTc-Sestamibi pré-opératoire systématique.

OBJECTIVE: The importance of preoperative 99mTc Sestamibi (MIBI) scintigraphy in case of reoperation for persistent hyperparathyroidism is well recognized, but it use as a systematic exploration technique remains a question of debate. We conducted this study to determine whether preoperative MIBI scans performed in all cases before surgery have any real impact. METHOD: Two successive series of 65 operated patients were included in the study. In the first group, the MIBI scan was not performed prior to surgery while in the second group the MIBI scan was part of the systematic work-up. RESULTS: The sensitivity and positive predictive value of MIBI were 92% and 96% respectively. Sensitivity for unique adenomas was 95% and 80% for multiple forms. In the first group without systematic scans, there were two unproductive procedures. In the second group, all procedures were productive and no reoperations were required. Two mediastinal adenomas were removed at the first cervicotomy in this group. The rate of complications was similar for both groups. Mean operation time was 2 hours in the first group and 1 hour 30 minutes for the second. CONCLUSION: Our series shows that there are three main advantages of using MIBI scintigraphy systematically prior to surgery for hyperparathyroidism: the procedure is easier in patients with cervical adenomas, particularly in case of ectopic localizations; the mean duration of the operation is shortened by 30 minutes; mediastinal ectopic localizations can be removed by sternotomy at the first operation. These advantages appear to be great enough to propose systematic use of MIBI scan prior to surgery. When MIBI scan shows a single gland, the risk of missing a multiple localization is less than 2% in our experience. It appears possible to operate under local anesthesia via a single-sided approach in elderly patients or high-risk patients.

[Solitary infantile myofibromatosis of bone]. / Myofibromatose infantile osseuse isolée.

We report one case of Solitary infantile Myofibromatosis of Bone in a 14-year old girl. Radiologic features of the tibial lesion were consistent with the diagnosis of a benign bone tumor. The final diagnosis was made on a total resection of the tumor. Histologically, the tumor consisted of nodules, hyalinized or cellular, with spindle-shaped cells resembling fibroblasts or smooth-muscle cells. There were numerous vascular spaces in close contact with these nodules. The tumor cells were immunoreactive with anti-alpha-smooth muscle actin antibodies. These data were consistent with the diagnosis of Myofibromatosis. The histologic features were similar to those of Infantile Myofibromatosis of other sites such as skin and soft tissue. The case reported is rare and not yet published, due to the age and sex of the patient, and the location of the tumor.

Dialysis arthropathy: outcome after renal transplantation.

PURPOSE: Patients treated by long-term maintenance hemodialysis frequently develop a form of chronic arthropathy that is strongly associated with beta 2-microglobulin amyloid deposition and related, at least in part, to beta 2-microglobulin retention. Successful renal transplantation is followed by a rapid fall in serum beta 2-microglobulin levels and might allow dissolution of amyloid deposits. The purpose of this work was to investigate the effects of renal transplantation on dialysis arthropathy. PATIENTS AND METHODS: Fourteen renal transplant recipients were selected on the basis of previous hemodialysis treatment for at least 10 years (mean 16) and a history of chronic joint pain prior to transplantation. They all received 10 to 17.5 mg/d of prednisone. Posttransplant rheumatologic manifestations were studied prospectively and compared to pretransplant rheumatologic manifestations recorded in medical charts and reported during patient interviews. Pretransplant and posttransplant articular roentgenograms were separately analyzed by three observers who were blinded to timing of the films. Beta 2-microglobulin amyloid was identified by Congo red staining and immunohistology. RESULTS: After a mean posttransplant interval of 54 months (range 12 to 121), the articular condition was improved in 10 patients, unchanged in 1, and worsened in 3, according to patients' assessments. The number of painful joints decreased significantly (P < 0.05) as compared to the pretransplant period. However, the number and size of subchondral bone erosions remained unchanged, destructive arthropathies generally worsened, and articular beta 2-microglobulin amyloid deposits were identified in 2 patients, 2 and 10 years after renal transplantation, respectively. CONCLUSION: Renal transplantation appeared to arrest progression of beta 2-microglobulin amyloid in dialysis patients, but it neither led to dissolution of deposits nor prevented progression of destructive arthropathies. Most articular symptoms were improved, probably as a result of corticosteroid therapy.

Fatty infiltration of disrupted rotator cuff muscles.

The extent of fatty infiltration of rotator cuff muscles was evaluated on computed tomography displays using a five-point scoring system in 63 shoulders before surgery for a rotator cuff tear and in 57 of these shoulders after surgical repair of the tear (the quality of cuff repair was evaluated in these 57 shoulders by arthrography, usually coupled with computed tomography, after a mean time interval of 8 months since the procedure). Preoperatively, significant fatty infiltration of the supraspinatus muscle was uncommon. Severe fatty infiltration of the infraspinatus and subscapularis muscles was seen in some patients. In most instances, fat accumulated in those muscles whose tendons were torn; however, tendon cleavage was associated with mild fatty infiltration of the corresponding muscle in some instances, and wide tears of the supraspinatus and subscapularis muscles were sometimes accompanied with severe fatty infiltration of the infraspinatus muscle. In half the cases, fatty degenerescence of the infraspinatus muscle occurred within six months of the tendon rupture. After surgery, in most shoulders without evidence of rotator cuff leakage on the postoperative arthrogram, no further accumulation of fat occurred. However, a decrease in the amount of existing fat was rarely documented and occurred only in the supraspinatus muscle. Before and after surgery, increasing severity of the fatty infiltration of the infraspinatus muscle was associated with increasing functional impairment of the same muscle. Recurrent rotator cuff tears, which involved only the supraspinatus muscle, were considerably more common when there was severe preoperative fatty infiltration of the infraspinatus muscle.(ABSTRACT TRUNCATED AT 250 WORDS)

Langerhans' cell histiocytosis. Definitive diagnosis with the use of monoclonal antibody O10 on routinely paraffin-embedded samples.

The histological and immunohistochemical findings of 34 biopsy specimens from patients with Langerhans' cell histiocytosis (LCH) are reported, with special emphasis on the findings with CD1a mouse monoclonal antibody (MAb) O10 using paraffin-embedded material. Eighteen patients were treated in an adult hospital (mean age, 26.3 years), and the 16 others were children (mean age, 3 years) from a pediatric center. Specimens included 17 bone, 14 skin, two lung, and one lymph node. Tissue was fixed in formalin or Bouin's, and most bone samples were decalcified in nitric acid. Frozen sections were available for 16 cases and electron microscopy for one. Light microscopy was suggestive of LCH in all cases, characterized by large mononucleated cells with abundant eosinophilic cytoplasm and "coffee bean" nucleus. In 33 of the 34 paraffin-embedded LCH samples, mononucleate cells were stained by MAb O10. As controls, we investigated seven tumors expressing S-100 protein (three nevi, two melanomas, two neurofibromas): all were negative with MAb O10. Five non-Langerhans' cell histiocytoses (three juvenile xanthogranulomas and two Rosai-Dorfman lymphadenopathies) were also negative with MAb O10. The results show that in most cases a definitive diagnosis of LCH can be assessed on paraffin-embedded tissue specimens with the help of immunohistochemistry using MAb O10.

Extrahepatic immunologic manifestations in chronic hepatitis C and hepatitis C virus serotypes.

OBJECTIVE: To determine, using a serotyping assay, whether the occurrence of extrahepatic immunologic disorders in patients with chronic hepatitis C is dependent on hepatitis C virus serotype. DESIGN: Prospective study. SETTING: Liver unit and virology laboratory of a university hospital. PATIENTS: 59 consecutive patients with chronic hepatitis C. MEASUREMENTS: Hepatitis C virus serotype was determined using a recently developed immunoenzymatic assay that detects antibodies directed to serotype-specific immunodominant epitopes. Cryoglobulin, rheumatoid factor, and numerous antitissue antibodies were sought. Biopsies of labial salivary glands were done in 49 of the 59 patients. RESULTS: Prevalence was 59% for serotype 1, 10% for serotype 2, 12% for serotype 3, and 3% for mixed infection. Fifteen percent of patients could not be serotyped. Cryoglobulinemia was found in 36% of patients and rheumatoid factor was found in the serum of 71%. At least one antitissue antibody was found in the serum of 41% of patients; salivary gland biopsy showed lymphocytic capillaritis in 49% of patients. These immunologic abnormalities were seen in patients infected with any of the three serotypes, and prevalences of the abnormalities did not differ significantly among patients infected with different serotypes. CONCLUSIONS: We confirm that the prevalence of extrahepatic immunologic abnormalities is high in patients with chronic hepatitis C. These abnormalities may occur in patients infected with any of the three major hepatitis C virus serotypes now present in developed countries.

Immunological disorders in C virus chronic active hepatitis: a prospective case-control study.

Hepatitis C virus-related chronic hepatitis may be associated with various immunological disorders. The aim of this study was to determine prospectively the prevalence of the clinical, biochemical and pathological immunological abnormalities in a series of 61 consecutive patients with chronic hepatitis C, compared with those in 61 age- and sex-matched control subjects without markers of hepatitis C virus and hepatitis B virus infections and with those in 61 patients with chronic hepatitis B. The following investigations were systematically performed before any treatment: detection of serum cryoglobulinemia and rheumatoid factor, detection of a large variety of serum anti-tissue antibodies, biopsy of labial salivary glands, ophthalmological examination, dosage of thyroid-stimulating hormone and in vivo capillary microscopy. Cryoglobulinemia was found in 36% of the hepatitis C virus patients, four of whom had dermatological and/or neurological manifestations of vasculitis, and rheumatoid factor was present in 70%. Serum anti-tissue antibodies were detected in 41% of cases, mostly antinuclear and anti-smooth muscle antibodies. Liver-kidney microsomal and antithyroid antibodies were rare. Salivary gland lesions were found in 49% of the patients: all had lymphocytic capillaritis, sometimes associated with lymphocytic sialadenitis resembling that of Sjögren's syndrome, but without features of sicca syndrome and Ro/SSA antibodies. Five percent of the patients had lichen planus. The prevalences of cryoglobulinemia, rheumatoid factor and anti-tissue antibodies were significantly higher than those in the control group and patients with chronic hepatitis B.(ABSTRACT TRUNCATED AT 250 WORDS)