| OBJECTIVE: In patients with sjogren's syndrome (SS), B lymphocytes have been found to infiltrate salivary glands, resulting in sialadenitis and keratoconjunctivitis. The disease is frequently associated with benign and neoplastic lymphoproliferation. The present study was undertaken to investigate whether clonal B cell expansion takes place in lymphocytic infiltrations of salivary glands under (auto- [?]) antigen stimulation, by analyzing in more detail the variable part (V(H)-D-J(H)) of the immunoglobulin heavy chain genes expressed in these B cells. methods: Biopsies of the labial salivary glands and lymph nodes were performed on 2 female patients with SS. The Ig gene rearrangements in these tissues were amplified by reverse transcriptase-polymerase chain reaction using specific primers. RESULTS: A total of 94 V(H)-D-J(H) transcripts were cloned and sequenced. Our data suggest a polyclonal origin of the B cell infiltrates. In 92 of the transcripts, V(H) genes were modified by somatic mutation. Further analysis showed counterselection for replacement mutations within the framework regions, suggesting that those B cells were stimulated and selected for functional expression of a surface Ig. In labial salivary glands from both patients, clonally related B cells became evident. Members of 1 particular clone were found in both the lip and lymph node material. CONCLUSION: These data provide evidence, on the nucleotide sequence level, that an antigen-triggered clonal B cell expansion takes place in the salivary glands of patients with SS who do not have histologic evidence of developing lymphoma. It may be speculated that those B cell clones expand during disease progression, resulting in lymphomagenesis. ( info) |
| We report a case of a 20-year-old Japanese female with recurrent anaplastic large cell lymphoma (ALCL) associated with sjogren's syndrome (SjS). She was first diagnosed to have ALCL presenting with axillary lymphadenopathy, which within a month underwent spontaneous remission, at the age of 12 years. Eight years later she developed left inguinal lymphadenopathy with clinical overt sicca symptoms associated with elevated serum IgG, interleukin (IL)-1beta and IL-6 levels. Lymph node biopsy was now diagnostic of ALCL characterized by large pleomorphic CD30 blast cells with the specific chromosomal abnormality, t(2;5)(p23;q35). In contrast to this the salivary gland and renal biopsy revealed infiltration of small lymphocytes, morphologically and cytogenetically distinct from the ALCL cells. Interestingly, SjS symptomatology correlated with disease activity of ALCL and based on an association with elevated IgG and IL-6 levels, suggesting that the concurrence of these two diseases could be more than coincidental. To the best of our knowledge, this is the first reported case of ALCL presenting concurrently with SjS. ( info) |
| A 66-year-old woman, diagnosed with chronic thyroiditis at age 63, presented with anorexia and fatigue. Therapy for the chronic thyroiditis consisted of levothyroxine sodium (100 microg/day). Her symptoms were attributed to the insufficient supply of levothyroxine sodium. Following a dosage increase to 150 microg/day, she suffered from an acute attack of pseudogout. Clinical features were complicated by sjogren's syndrome, which appeared after treatment onset. Pseudogout was effectively treated by colchicine after administration of diclofenac sodium failed to alleviate the symptoms. Pseudogout is a recognized complication of thyroid replacement therapy, but association with sjogren's syndrome has not been previously reported. ( info) |
4/821. Multisystem neuronal involvement and sicca complex: broadening the spectrum of complications. We report two patients with multisystem neuronal involvement associated with sicca complex. One had a lower motor neuron syndrome combined with a flaccid bladder and rectum. The second patient had unilateral hearing loss, sensory neuronopathy, Adie's pupils, upper motor neuron signs, and autopsy-proven anterior horn cell degeneration. Our cases lead us to propose that the spectrum of neuronal involvement occurring with sicca syndrome may be wider than is currently appreciated. ( info) |
| sjogren's syndrome (SS) is a common multisystem autoimmune disorder. As with other autoimmune disorders such as systemic lupus erythematosus (SLE), SS has been associated with a wide range of neurologic abnormalities. Parkinsonism has been reported previously in five SS patients. We present three additional cases of SS with parkinsonism. ( info) |
6/821. Relevance of complement fixing antinuclear antibodies. BACKGROUND: connective tissue diseases (CTDs) are a heterogeneous group of disorders defined by the association of a variety of clinical manifestations with immunologic and other laboratory findings. Overlap of syndromes and aberrant findings appear rather frequently. methods: Sera of eight antinuclear antibody (ANA) negative, cases of subacute cutaneous lupus erythematosus (SCLE) with antibodies to Ro (SS-A) and a ninth case with clinical and laboratory signs of sjogren's syndrome and systemic lupus erythematosus (SLE) were tested for complement (C') fixing antinuclear antibodies (C-ANAs). The ninth case was examined in depth by direct immunofluorescence (DIF) and a two-step "C DIF" test of biopsies for C' fixation to in vivo bound ANAs, as well as serum tests for C-ANA, ANA, and SCLE markers. RESULTS: Sera of five of the eight ANA negative, Ro(SS-A) positive SCLE cases had C-ANAs. The ninth case, a 50-year-old woman with clinical and laboratory signs of sjogren's syndrome and SLE, gave a strong positive C DIF reaction in the skin biopsy for in vivo bound ANAs that fix C', but negative ANAs and C-ANAs in routine serum tests; they revealed antimitochondrial antibodies. serum tests on normal skin, however, revealed weak ANA and strong C-ANA reactions with in vitro fixed C'. CONCLUSIONS: ANA negative cases of SCLE or sjogren's syndrome may have C-ANAs. A case with sjogren's syndrome and signs of SLE had both in vivo and in vitro C' fixing ANAs. C-ANA tests can aid in the identification of such cases. ( info) |
7/821. Identification of a novel PTEN mutation (L139X) in a patient with Cowden disease and sjogren's syndrome. Cowden disease is an autosomal dominant disorder associated with an increased risk of breast, thyroid, and skin cancer in which germline mutations in a candidate tumour suppressor gene (PTEN) have been identified previously. sjogren's syndrome is a chronic inflammatory and autoimmune disorder of exocrine glands for which the genetic basis is unknown. This report describes a novel PTEN mutation (L139X) in a patient with Cowden disease and sjogren's syndrome. This observation raises the possibility of a link between mutations in the PTEN gene and sjogren's syndrome. ( info) |
8/821. Bilateral and multicystic major salivary gland disease: a rare presentation of primary sjogren's syndrome. We present a case of a 15-year-old girl with bilateral parotid and sub-mandibular salivary gland enlargement as the sole presentation of primary sjogren's syndrome. The clinical, radiological, immunological and pathological features have been discussed. The relevant literature has been reviewed. To our knowledge this is the only reported case of sjogren's syndrome presenting as multicystic disease with bilateral major salivary gland involvement. ( info) |
| A 67-year-old woman with a history of thyroiditis presented with recent intermittent epigastric pain and nausea. Hyperamylasaemia, oedema of the pancreas, and high serum levels of lipase and CA 19-9 were found. xerostomia and dry eyes developed later, accompanied by an abnormal Schirmer's test. The diagnosis of sjogren's syndrome was confirmed by increased anti-Ro and anti-La antibodies and the histological findings of parotid gland biopsy. Two additional cases of sjogren's syndrome with elevated serum CA 19-9 are also described. These observations of elevated serum lipase and serum CA 19-9 in sjogren's syndrome without evidence of malignancy may reflect pancreatic involvement in this disorder. ( info) |
10/821. The relationship between facial annular erythema and anti-SS-A/Ro antibodies in three East Asian women. A distinct annular erythema developed on the cheeks of three East Asian women who had anti-SS-A/Ro (SSA) antibodies. The erythema was characterized by a wide, elevated border and central pallor. Histologically, there was a coat-sleeve-like infiltration of lymphocytes around the blood vessels, appendages, and secretory gland cells in the dermis. Immunohistological analysis clarified that the majority of infiltrating lymphocytes were CD4-positive T cells. Abnormal expression of hla-dr antigens in the perivascular, appendage, and secretory gland cells in the dermis was also observed. The differential diagnosis of the three patients lay between Sjogren syndrome (SjS), Sjogren/systemic lupus erythematosus overlap syndrome and an asymptomatic clinical state. These results are consistent with recent findings of major histocompatibility complex class II expression on target organs in various autoimmune diseases. Based on these findings, erythema appears to represent a broad cutaneous manifestation of these diseases. Furthermore, the presence of SSA antibodies, aberrant HLA-DR expression, and sun exposure may be responsible for the development of erythema. ( info) |