[Periodic fevers]. / Les fièvres périodiques.

Periodic fever is defined as a series of unexplained febrile episodes, most often starting during childhood. The febrile episodes last usually few days, are of fixed or variable duration, and regress spontaneously, the intervals between episodes being asymptomatic. Fever is accompanied by clinical manifestations affecting peritoneal, pleural and/or mucous membranes, joints and skin. Four different etiologies are presently known. Three are hereditary diseases: familial mediterranean fever and periodic fever with hyperimmunoglobulinemia D which have a recessive autosomal transmission, and TNF receptor associated periodic syndrome or TRAPS which has a dominant autosomal transmission. One is sporadic: periodic fever with aphthous stomatitis, pharyngitis and adenopathy or PFAPA. Other etiologies are yet to be identified as many cases of periodic fever remain unexplained.

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial or pleural effusions have been observed in some patients. Recently, the disease gene has been assigned to human chromosome region 1q25-q31, and truncating mutations have been identified in the megakaryocyte stimulating factor gene. Studying 12 patients from 8 unrelated families, we emphasized hip and spine involvement, particularly in the course of the disease as shown in a 58-year-old patient. Despite clinical variability, linkage studies support genetic homogeneity of the disease.

Major histocompatibility complex markers and disease heterogeneity in one hundred eight patients with systemic onset juvenile chronic arthritis.

STUDY OBJECTIVES: Long term prognosis of systemic juvenile chronic arthritis range from full recovery to extremely severe crippling polyarthritis. An association between HLA-DR4 and a poor articular outcome has been reported. We studied the frequencies of class I, class II, and class III antigens according to clinical and laboratory test findings, particularly presence of antibodies to type II collagen, in a cohort of 108 patients. METHODS: A number of clinical and laboratory test findings were recorded at the time of the study. Class A, B, C, and DR antigens were assayed using a microcytotoxicity method. Antibodies to type II collagen were evaluated by ELISA. BMDP software was used for the statistical analysis. RESULTS: No significant differences in antigen frequencies were found between patients and controls for any of the loci. There were no significant differences in HLA-DR antigen frequencies between patients with favorable joint outcomes and those with chronic polyarthritis. CONCLUSION: Our findings do not corroborate those of earlier studies in smaller numbers of patients.

[Blau syndrome or familial form of sarcoidosis with onset during infancy]. / Syndrome de Blau ou forme familiale de sarcoïdose à début infantile.

INTRODUCTION: Blau syndrome is a granulomatous disease with dominant autosomal transmission. Skin, joint and ocular manifestations usually appear in childhood. CASE REPORTS: A father and his son had granulomatous disease with skin and joint manifestations beginning in childhood. Both patients had inflammatory polyarticular deformations of the small and medium sized joints with formation of synovial cysts. Skin manifestations were seen only in the son who presented diffuse micropapulous eruptions. Histology examination of the superficial and deep derma revealed an epithelioid granuloma without necrosis. DISCUSSION: Our case are similar to the syndrome described by Blau who recognized the familial nature of early onset sarcoidosis and probable autosomal dominant transmission together with joint deformation and development of synovial cysts without pulmonary involvement.

Is diffuse sclerosing osteomyelitis of the mandible part of the synovitis, acne, pustulosis, hyperostosis, osteitis (SAPHO) syndrome? Analysis of seven cases.

Diffuse sclerosing osteomyelitis of the mandible has been described as a localized disease of unknown origin. We offer evidence that mandibular involvement in the recently described synovitis acne pustulosis hyperostosis osteitis syndrome exactly fits the accepted description for diffuse sclerosing osteomyelitis of the mandible. The clinical, radiologic, and pathologic findings in seven such cases are presented and discussed.

[Involvement of the hip in systemic-onset forms of juvenile chronic arthritis. Retrospective study of 28 cases]. / L'atteinte de la hanche au cours des formes à début systémique d'arthrite chronique juvénile. Etude rétrospective de 28 cas.

The objective of this work was to evaluate the course of hip disease in patients with systemic-onset juvenile chronic arthritis. 59 patients with systemic-onset juvenile chronic arthritis followed-up for a mean of 15 years (+/- 6 years) were studied retrospectively. 28 patients (47.5%) had involvement of the hip. Mean age at onset of symptoms of hip disease was 9.5 years (+/- 5 years). Hip arthritis was always preceded by other manifestations of the disease, including arthritis of other lower limb joints. Mean time interval between onset of the disease and onset of hip symptoms was 6.3 years (+/- 3 years). In 66% of cases, symptoms occurred simultaneously in both hips. Eight of nine patients with initially unilateral hip arthritis subsequently developed arthritis of the other hip; in four patients, less than one year elapsed between involvement of the two hips. Roentgenographic changes were variable and included acetabular protrusion (25%), complex cervico-cephalic and acetabular growth disorders (21%), subdislocation (18%), a short femoral neck with varus deformity (14%), and a long femoral neck with valgus deformity (14%). Avascular necrosis of the femoral head occurred in three patients. Roentgenographic evidence of repair was seen in one patient. Among the ten patients who required surgery, two had corrective osteotomy with adductor tenotomy and eight had total hip arthroplasty (of both hips in six patients) with good short- and medium-term outcomes. After arthroplasty, a single patient required reoperation in the short term, for persistent flexion contracture. Loosening of the acetabular arthroplasty required revision in two patients 5 and 10 years, respectively, after the initial procedure.(ABSTRACT TRUNCATED AT 250 WORDS)

Renal amyloidosis in juvenile chronic arthritis: evolution after chlorambucil treatment.

Over a 22-year period, eight patients affected with severe systemic or polyarticular juvenile chronic arthritis (JCA) developed systemic amyloidosis with nephrotic syndrome. They were treated with chlorambucil over 5-192 months (mean = 44 months). With treatment, an abrupt decrease in the severity of JCA was observed in six patients but two patients were chlorambucil resistant. After a mean follow-up period of 10 years from onset of renal symptoms, one chlorambucil-resistant patient died of end-stage renal failure; two patients have a persistent nephrotic syndrome; and five patients are free from proteinuria, of whom one has developed hypertension. A good correlation was observed between the response of the rheumatic disease to chlorambucil treatment and the clinical course of renal symptoms. Fourteen renal biopsies were performed in these eight patients. In all, amyloid deposits were of the AA type, which persisted on repeat biopsies. In addition, 15%-60% of glomeruli had become globally sclerotic by the second or third biopsies. At the ultrastructural level, modifications in the structure of amyloid deposits and reparative changes of the glomeruli, characterized by partial restoration of glomerular architecture, were observed in three patients with a favourable clinical course.

[Rheumatism and acne conglobata . Apropos of a new case, in a 13-year-old boy]. / Le rhumatisme de l'acné conglobata. A propos d'une nouvelle observation, chez un garçon de treize ans.

With reference to a new case of acne conglobata-associated rheumatic disease in a thirteen-year-old boy, we recall the characteristics of the main joint and/or bone manifestations that may occur during severe flares of acne conglobata, but also acne fulminans or pustulosis of the palms and soles. Joint manifestations mainly involve the large proximal joints of the limbs and consist in pain rather than in signs of inflammation. Although recurrences may develop, joint disease responds to treatment of the acne combined with a non-steroidal antiinflammatory drug. Bone involvement consists in true rheumatic osteitis with hyperostosis responsible for densification and thickening of bone, mainly in the anterior chest wall and spine. The pathogenesis and nosologic place of these bone and joint manifestations remain controversial: they do not seem to represent true reactive arthritis and, although the B27 antigen is usually lacking, they have been likened to the group of spondylarthropathies, especially in those cases with sacroiliac involvement and enthesopathy . Oddly enough, they are reminiscent of some of the side effects of etretinate, an agent prescribed in these severe forms of acne. After a national survey carried out in 1986, the acronym SAPHO (Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis) was suggested to designate the range of skin, bone and joint manifestations observed.

Renal involvement in juvenile chronic arthritis: clinical and pathologic features.

Over an 18-year period, renal involvement was diagnosed in 13 patients, who represent 1% of the total juvenile chronic arthritis population referred to us. All had severe arthritis. This study illustrates the importance of renal biopsy and indicates that renal involvement in juvenile chronic arthritis is a heterogeneous group of diseases, with a variety of causes. In eight patients with nephrotic syndrome, renal biopsy revealed amyloidosis. One rapidly died of diffuse amyloidosis and infection. The other seven received chlorambucil. Disappearance of proteinuria was noted in three of them. Four patients have persistent proteinuria but normal serum creatinine. It is suggested that, despite the long-term oncogenic risk of the drug, chlorambucil may be beneficial in patients with amyloid deposits. In one patient, the nephrotic syndrome was attributed to systemic lupus erythematosus, and in another, the chance association of an arthritis and nephrotic syndrome with minimal glomerular changes was considered. Although drug responsibility is difficult to determine in these patients receiving several medications in association, the renal involvement presented by the remaining three patients was probably related to drug(s). Moreover, it is possible that the effect of the association of medications is deleterious to the kidney. Drug-induced nephropathy is usually reversible when drugs are stopped. Unfortunately, because of persistent joint pain, these patients will continue to require pain-relieving drugs over prolonged periods.

[Functional, social and professional outcome of patients with juvenile chronic arthritis seen again 12 years after a 1st evaluation]. / Devenir fonctionnel, social et professionnel de patients atteints d'arthrite chronique juvénile revus 12 ans après une première estimation.

The authors assessed the outcome of children with juvenile rheumatoid arthritis following an average of 18 years since the onset of the illness. Two-thirds of the patients with the systemic form were asymptomatic. Juvenile rheumatoid arthritis which began with pauciarticular involvement and progressed to polyarticular involvement had the most severe disability, affecting 25% of these patients. Social and professional pursuits were most often satisfactory in spite of numerous problems encountered during the school years.

[Joint prognosis in systemic chronic juvenile arthritis (100 cases)]. / Pronostic articulaire de la forme systémique de l'arthrite chronique juvénile (cent cas).

A retrospective study of 100 cases of systemic juvenile rheumatoid arthritis, including 51 girls and 49 boys, is reported. Follow-up was at least three years in 83 cases, 7 years in 72 of them and 12 years in 20 of them. Patients were included in the study if they experienced high grade intermittent fever for at least two weeks at any time during the course of their disease: thus, patients with delayed fever were eligible whatever the time-interval between onset of the disease and occurrence of fever. The purpose of the study was, indeed, to determine the articular prognosis of the disease according to the overall course rather than to features at onset. Overall results show that clinical involvement of joints occur in the following order: knee 98%, ankle 81%, wrist 77%, cervical spine 70%, elbow 66%, hand 56%, hip 45%, shoulder 29%, foot 10%. In addition, radiologic changes in the temporomandibulary joint are fairly common: 46%. Estimation of these incidences was done 7 years at least after onset. An analytical study was carried out for four joints. At the wrist, very significant findings are regression of inflammatory arthritis (77% before 3 years, 67% after 7 years), progression of bone destruction (19% before 3 years, 67% after 7 years) and stability of permanent stiffness (56% before 3 years, 60% after 7 years) due initially to joint inflammation and subsequently to osseous and fibrous ankylosis. The hip is involved in more than 60% of cases with replacement arthroplasty being considered because of the severity of radiologic destruction in 8% of cases.(ABSTRACT TRUNCATED AT 250 WORDS)