Bilateral brachial synovial cysts in systemic juvenile idiopathic arthritis: Case report and literature review.

AIM: To review the clinical features of brachial synovial cyst. METHOD: A case of bilateral brachial synovial cysts is described in a child suffering from systemic juvenile idiopathic arthritis during a relapse. Magnetic resonance imaging and ultrasonography were conducted to further evaluate the nature of the cysts. The case is compared with known cases in a literature review. RESULTS: Review of the literature showed that brachial synovial cysts occur most commonly in systemic juvenile idiopathic arthritis. It is considered that uncontrolled systemic inflammation and recurrent disease activity might be the cause of synovial cysts. CONCLUSION: Brachial synovial cyst is a rare manifestation of juvenile idiopathic arthritis. Uncontrolled systemic inflammation inducing chronic damage to joint structure may be the primary cause of synovial cyst formation.

Synovial cyst in juvenile idiopathic arthritis.

Small synovial cysts are a common manifestation of juvenile idiopathic arthritis; large brachial cysts, however, are a rare sign of the disease and they must be differentiated from other soft tissue swelling which are not related to articular involvement. We describe the case of three children with juvenile idiopathic arthritis who came to our attention with large synovial cysts. Ultrasonographic examination and MRI were performed in all cases, showing the real nature of the swelling and the connection to the joint. In all cases, swelling reduced and then disappeared with control of disease activity; in two cases, they reappeared in coincidence with a severe relapse of juvenile idiopathic arthritis. Brachial swellings represent a diagnostic challenge because they can be the clinical expression of a variety of diseases. In children with juvenile idiopathic arthritis who present with a sudden swelling of the upper arm, synovial cysts must be considered in the diagnostic workout, because they are a possible rare manifestation of juvenile idiopathic arthritis.

Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.

OBJECTIVE: To determine whether HLA and autoimmunity contribute to the pathogenesis of Blau syndrome (familial granulomatous arthritis, uveitis, and rash) and evaluate whether this condition is related to sarcoidosis. DESIGN: Large family survey. SETTING: General community, Green Bay, Wis, and two tertiary care medical centers in Philadelphia, Pa. PARTICIPANTS: Thirty-six family members and spouses from a large kindred with Blau syndrome. SELECTION PROCEDURES: Volunteer and convenience sample. INTERVENTIONS: None. MEASUREMENTS AND RESULTS: Ten affected and many unaffected subjects were personally examined. Medical records and previous biopsy reports and specimens, when available, were reviewed. Two affected subjects had skin biopsies performed and three affected adult subjects were tested with Kveim skin-test reagent. Serologic and genomic class I and class II HLA typing was performed on 27 affected and unaffected subjects. All 13 living affected subjects and the one obligate carrier had the following assays performed; antinuclear antibody titer, rheumatoid factor, serum angiotensin converting enzyme level, quantitative immunoglobulins of the IgG, IgM, and IgA classes, and clinical chemistry profiles. Several had complete blood cell counts and erythrocyte sedimentation rates performed. Four affected subjects, one possibly affected subject, and one obligate carrier were newly identified. Flexion contractures of the fingers and toes (camptodactyly) were found, for the first time, to be a phenotype characteristic. Earlier onset and worsening of symptoms in succeeding generations (anticipation) were observed. Sixteen HLA haplotypes were identified. No conclusive evidence for linkage between these haplotypes and phenotype expression could be demonstrated. All 13 affected subjects, however, carried the DR2 (DR beta 1*1501) and/or DR4 (DR beta 1*0401) allele. There was no evidence of hypercalcemia, hypergammaglobulinemia M, rheumatoid factor production, or abnormal blood cell counts. Two affected subjects had low-titer antinuclear antibody screening tests, five had mild to moderately elevated IgG and/or IgA levels, two had raised serum angiotensin converting enzyme levels, and three had mild elevation of the erythrocyte sedimentation rate. All three subjects tested with Kveim skin-test reagent showed no reactivity by visual inspection. Both subjects who had had skin biopsies performed had evidence of granulomatous inflammation. CONCLUSIONS: This family's illness is distinct from both classic and early-onset sarcoidosis. There is minimal evidence for autoimmunity and systemic inflammation. Camptodactyly should be added to the list of syndrome-defining characteristics. Although HLA haplotypes do not appear to segregate with affected subjects, HLA-DR2 and HLA-DR4 subtypes may play a permissive role in phenotype expression. This family represents a unique opportunity to define the molecular mechanisms involved in the initiation of arthritis and uveitis in humans. Genetic linkage studies to determine the chromosomal location of the Blau syndrome gene are in progress.

Macrophage phenotype within simple ganglia.

Immunohistological staining of the connective tissue stroma of simple ganglia using monoclonal antibodies demonstrated infiltrating mononuclear phagocytes. These cells were characterised by positive staining for the leukocyte common antigen, the monocyte associated CD14 phenotype and HLA-class II antigens. There was only occasional expression of an epitope associated with macrophage maturity, and of the iC3b receptor. No expression of the C3b receptor, the high affinity Fc receptor, the p150.95 adhesion molecule or the p8.14 molecule was observed. Polymorphonuclear leukocytes and lymphocytes were absent. The restricted epitope expression by the mononuclear phagocyte population of simple ganglia may be a reflection of the absence of other inflammatory cells and indicates that the micro-environment within inflammatory lesions such as subcutaneous rheumatoid nodules is very different to that present in ganglia.