Clinical and serologic characteristics of patients with overlap syndrome: is mixed connective tissue disease a distinct clinical entity?

We discuss the clinical and serologic features of 27 patients with overlap syndrome followed prospectively by our group. The findings are similar to those of other reports, but we have drawn attention to the presence of peritendinous nodules in these patients and mentioned some peculiar neurologic manifestations. Rheumatoid arthritis was the most common diagnosis in our patients. The presence of high-titer antibodies against the nuclear ribonucleoprotein fraction of extractable nuclear antigen (nRNP) did not allow the identification of a particular subgroup. However, patients with this antibody tended to fulfill more criteria of more diseases than those without it. The findings lead us to conclude that antibodies to nRNP do not identify a particular subgroup within the overlap syndromes and that mixed connective tissue disease does not appear to be a distinct entity.

Idiopathic familial chondrocalcinosis due to apatite crystal deposition.

Idiopathic familial chondrocalcinosis was found in five members of a family. The clinical features of the disease were morning stiffness, pain and limitation of motion of the dorsolumbar spine in four of the five members, associated with arthritis of the small joints of the hands in three, shoulder periarthritis in two and costal cartilage pain in one. Radiologically, four of the five patients had multiple intervertebral disk calcifications, mainly located at the nucleus pulposus area. Three of them also had periarticular calcific deposits, associated with costal cartilage calcifications and degenerative changes in the small joints of the hands in two. None of these cases showed cartilage calcification in the knees, public symphysis or triangular ligament of carpus. In the propositus, optical microscopy of a specimen of the second proximal interphalangeal joint obtained by open biopsy showed the presence of multiple calcified areas in the intercellular matrix and chondroid metaplasia with calcification of the matrix in the synovial membrane and capsule. X-ray diffraction studies, energy dispersive analysis, and infrared spectrophotometry of a costal cartilage sample obtained by open biopsy demonstrated the presence of carbonate calcium hydroxyapatite. In this study, no relation was found between HLA antigens, loci A, B and C, and this syndrome due to calcium hydroxyapatite crystal deposition.

Radiologic review: the cervical spine in juvenile rheumatoid arthritis.

In our patients, zygapophyseal joint fusion was the most frequent and characteristic roentgenographic finding of cervical spine involvement in JRA. It was not associated with any subset of patients. Atlanto-dens interval greater than 4.5 mm was present in 20% of patients, but was not related to the development of neurologic manifestations. Mild enthesopathic-like changes around the upper cervical area were observed in some children. In patients with severe long standing disease and extensive zygapophyseal joint fusion, longitudinal ligament calcification was observed. Growth disturbances of the cervical spine were more frequently observed in patients with zygapophyseal joint fusion and earlier onset of disease.

Immunofluorescent vascular pattern due to EVI antibody of Chagas' disease. Its diagnostic value.

One hundred fifty-six of 1,250 sera from patients with presumed connective tissue and related diseases showed vascular staining on mouse liver cryostat sections when they were routinely checked for antinuclear factor by the indirect immunofluorescence test. In a third of the cases, the vascular immunofluorescent pattern was given by the EVI antibody reacting with the plasma membrane of striated muscle fibers and endothelial cells, as has been recently described to occur in Chagas' disease. This led to the detection of previously unsuspected Trypanosoma cruzi infection in 67.8% of the serum samples in which the EVI antibody was detected after observation of a positive vascular pattern with mouse liver cryostat sections. On the other hand, no significant relationship between Chagas infection and sera with other anti-striated-muscle immunofluorescent patterns that also showed a vascular staining on mouse liver cryostat sections was established. Consideration of the vascular pattern observed with the EVI antibody on mouse liver cryostat sections can be helpful in detection of previously ignored T. cruzi infection in patients who have connective-tissue diseases and related conditions. This is of interest in view of the fact that anergic immunodepressive therapy, often used in these patients, significantly alters the host-parasite relationship and may lead to severe dissemination of the parasite.

Spinal artery steal syndrome in Paget's disease of bone.

We report a case of vertebral Paget's disease with paraplegia and no evidence of spinal cord compression, in which the neurological condition improved dramatically after treatment with calcitonin. Spinal cord vascular steal syndrome is suggested as another mechanism responsible for this neurologic complication.

Lymphadenopathy secondary to silicone hand joint prostheses.

The occurrence of lymphadenopathies was investigated in 23 patients with diverse rheumatic conditions who had silastic prosthesis in joints of the hands, to determine whether these adenopathies were due to the presence of silicone particles. Five cases had clinically detectable lymph node enlargement and tissue samples were studied by light and scanning electron microscopy (SEM) and energy dispersive X-ray analysis (EDXA). In 3 out of the 5 cases foreign body granulomas were observed by light microscopy, SEM showing a highly irregular distribution of foreign body material with a peak for silicone by EDXA. Foreign body particle distribution closely correlated with silicone concentration. No granulomas were found in the two remaining patients with adenopathies who presented a non-specific reactive lymphadenitis. Our findings show that silicone lymphadenopathy is a more frequent complication (13%) of silastic arthroplasty than is usually recognized and therefore should be considered in the differential diagnosis of patients with lymph node enlargement who have previously received a silicone arthroplasty.

Ectopic ossification following total hip replacement in juvenile chronic arthritis.

Of twenty-one patients with juvenile chronic arthritis (seventeen with juvenile rheumatoid arthritis and four with juvenile ankylosing spondylitis) who had total hip replacement before the age of thirty years, thirteen patients (62 per cent) showed different degrees of ectopic ossification: nine (53 per cent) of the seventeen with juvenile rheumatoid arthritis and all four of those with juvenile ankylosing spondylitis. Human leukocyte antigen B5 was found with an increased frequency in the patients with ectopic ossification. Functional capacity was not impaired regardless of the severity of the ectopic ossification. As in patients with adult-onset disease, ectopic ossification after total hip replacement occurred with a higher frequency in the patients with juvenile-onset ankylosing spondylitis than in those with juvenile-onset rheumatoid arthritis.

Neurological features in overlap syndrome.

We report the frequency of neurological findings in 33 patients with overlap syndrome and describe 2 patients presenting unusual neurological involvement. Five of the 33 patients (15%) had one or more neurological findings. Unilateral trigeminal sensory neuropathy was presents, in 4 patients, in 3 of whom this was the only neurological feature. In the other patient it was associated with other manifestations of central as well as peripheral nervous system involvement, with an overall clinical pattern highly suggestive of a demyelinating disorder. The fifth patient, after an aseptic meningitis-like illness, developed a slowly progressive paraparesis, likewise pointing to a demyelinating disease. Our findings suggest that neurological manifestations, mainly trigeminal neuropathy, are frequent features in overlap syndrome; occasionally, central nervous system involvement mimicking a demyelinating disease may also be observed.

Carcinomatous arthritis of the elbow caused by metastatic breast carcinoma.

We report a case of persisting chronic monoarthritis of the elbow in a 54-year-old woman with previous breast surgery for carcinoma. An open biopsy of the elbow showed a chronic nonspecific synovitis and a poorly differentiated metastatic adenocarcinoma on the radial head. This is the first report of elbow arthritis due to metastatic breast carcinoma.

Auranofin in juvenile rheumatoid arthritis. An open label, non-controlled study.

An open label, non-controlled trial of six-month duration was designed to determine the safety and efficacy of auranofin in the treatment of 13 children with polyarticular JRA. Adverse reactions were observed in 5 of the 13 patients (38%) but only in one was it serious enough to discontinue treatment. None of the patients developed diarrhea or hematologic abnormalities. Therapeutic response was evaluated in the 11 patients who completed the six-month treatment. According to the final overall assessment 9 of the 11 children had improved, one remained unchanged and one worsened. After four months of treatment serum gold levels in 11 patients ranged between 28 and 59 micrograms/dl, with a mean value of 34 micrograms/dl. There was no correlation between serum gold levels and the frequency and severity of side effects.

Holter monitoring in ankylosing spondylitis patients during methylprednisolone pulse therapy.

Sudden death following steroid pulse therapy has been recently reported. Continuous electrocardiographic recording was performed 24 hours before, during, and 24 hours after each one to three high dose intravenous methyl prednisolone pulses administered of five patients with severe ankylosing spondylitis unresponsive to conventional therapy. No increase in supraventricular or ventricular arrhythmias was observed. Bradyarrhythmias, conduction disturbances or ischemic changes were not found. Cardiovascular symptoms did not occur in any case; there were no significative changes in any of the clinical controls. Transient elevations of serum glucose were observed in all patients. Although a transient increase in potassium and decrease in sodium urinary excretion was noted, serum levels remained within normal values.