1/8. osteoporosis with underlying connective tissue disease: an unusual case.A 44-year-old male was initially seen by dermatologists, who noted an erythematous rash on sun-exposed areas, the back, shoulders, and upper arms. There was associated muscle weakness and significant weight loss. Investigation revealed mildly raised aspartate and alanine transaminases but normal creatine kinase. Inflammatory indices and antinuclear antibodies (ANAs) were normal. biopsy of the rash was reported as consistent with either dermatomyositis (DM) or acute lupus erythematosus. A diagnosis of DM was made, and prednisolone was given with improvement of the rash but deteriorating myopathy. The patient was referred to the rheumatology department, and further history revealed multiple vertebral fractures after falling from standing height; these had occurred six months prior to starting steroids. Besides smoking he had no other risk factors for osteoporosis. Examination showed normal muscle strength, no muscle tenderness, and no joint abnormality. Repeat muscle enzymes were normal, and ANAs were now 1 : 100, but dsDNA antibodies and extractable nuclear antigens were normal. Investigations for osteoporosis revealed a hypergonadotrophic hypogonadism picture. Further examination indicated scanty pubic and auxiliary hair, small testicles, and mild gynecomastia. He is married, though has no children of his own. The hormonal profile raised the possibility of Klinefelter's syndrome, which was subsequently confirmed with karyotyping of 47 XXY. hypogonadism has been established as a cause of osteoporosis in males, and in this case would explain the occurrence of fractures in the absence of other major risk factors. Systemic lupus erythematosus has been recognized in association with Klinefelter's syndrome; in view of the normal muscle enzymes, his rash is most likely due to acute discoid lupus with androgen deficiency causing muscle weakness.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
2/8. Discoid lupus erythematosus and X-linked chronic granulomatous disease.X-linked chronic granulomatous disease (CGD), a defect of leukocyte bactericidal capacity, was seen in three generations of a large kindred. The association of discoid lupus erythematosus (DLE) with CGD was noted. Recurrent antigenic stimulation leading to autoantibody formation may explain the apparently increased frequency of DLE in female carriers of CGD. A screen for CGD, the nitroblue tetrazolium test, is suggested for females with DLE who have experienced suppurative infections or who have a family history of early childhood deaths or recurrent infections.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
3/8. An association between C1 esterase inhibitor deficiency and lupus erythematosus: report of two cases and review of the literature.Two patients who had lupus erythematosus and C1 esterase inhibitor deficiency are described. The data on eleven previously reported cases are reviewed and summarized with those from our own cases. Early complement component depletion secondary to C1 esterase inhibitor deficiency may predispose to the development of lupuslike syndromes by impairing the ability of the organism to handle foreign antigen. Further study of this unique group of patients may provide insight into the pathogenesis of immune complex disease.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
4/8. Concurrent localized scleroderma and discoid lupus erythematosus. Cutaneous 'mixed' or 'overlap' syndrome.Four patients with concurrent, chronic, progessive, localized scleroderma and discoid lupus erythematosus were studied; the condition originated as linear scleroderma in three of them. Three of the four patients were young females at the onset of the first skin disease. Dermatopathologic study confirmed the scleroderma and lupus erythematosus (LE). Direct immunofluorescence showed a positive band test in three cases. Unusual serological results included a positive LE clot test in three cases, a positive extractable nuclear antigen test in one case, and a negative antinuclear antibody test on repeated occasions in all four cases. Rare cutaneous disease similar to systemic, "mixed," or "overlap" connective tissue disease exists and offers an opportunity to study unusual immunologic and pathological events in both scleroderma and LE.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
5/8. autoantibodies directed against sicca syndrome antigens in the neonatal lupus syndrome.Clinical and serologic studies on three infants who had the neonatal lupus syndrome and studies on their mothers revealed an association with antibodies to sicca syndrome antigens. From initial studies and a 2-year follow-up, there is evidence that indicates transplacental passage of autoantibodies directed against Sjogren's (sicca) syndrome-associated nuclear antigens from asymptomatic mothers to newborns who subsequently developed neonatal lupus. Besides the presence of antinuclear antibodies, the mothers of these infants also showed high rheumatoid factor titers, and two had evidence of mild decreasing tearing on ophthalmologic examination. On follow-up examination 2 to 3 years later, both infants and mothers lacked evidence of active disease, and only the mothers continued to demonstrate the serologic abnormalities seen initially. Based on our findings, we postulate newborns of mothers with serologic or clinical evidence of Sjogren's (sicca) syndrome may be at greater risk for developing neonatal lupus.- - - - - - - - - - ranking = 6keywords = antigen (Clic here for more details about this article) |
6/8. connective tissue panniculitis.Two patients with lobular lymphohistiocytic panniculitis had chronic lesions that produced subcutaneous atrophy and that were responsive to antimalarial drugs. Massive lymphocytic infiltrate was associated with caseation necrosis of the fat lobules. In both patients, an unusual antibody to extractable nuclear antigen was seen, and antinuclear antibody was sometimes present. The unusual manifestation, course of the disease, serologic findings, and response to therapy suggest that the panniculitis is related to (but does not evolve into) lupus erythematosus panniculitis or subcutaneous morphea or both. A satisfactory term for this entity would be "connective tissue panniculitis."- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |
7/8. Acquired hypoprothrombinemia: effects of danazol treatment.The lupus anticoagulant may be accompanied by an acquired factor II deficiency and bleeding. We report on a patient with a lupus anticoagulant and factor II (Fll) deficiency responsive to danazol. Acquired hypoprothrombinemia (FII) with the lupus anticoagulant (LA) may be accompanied by a hemorrhagic diathesis. A 64-year-old male with discoid lupus erythematosis bled after an intestinal polypectomy. His FII level was 18%, and his FII antigen level was 20%. danazol (D) (600 mg per day) administration was associated with a rise in FII activity and antigen to 50% within 10 days. The patient underwent abdominal surgery. We studied the effect(s) of D on the FII level and on other coagulation factors in this patient. The patient's plasma FII antigen had a single precipitin arc compared to the two peaks of normal plasma on counterimmunoelectrophoresis with Ca . The samples pre- and during D therapy had the same positively charged arc as normal samples, although they were quantitatively different. neuraminidase treatment demonstrated a decrease in the positively charged migration of normal and the patient's FII antigen. Affinity chromatography of normal and patient plasma on a sepharose protein A column revealed FII antigen present in the patient's bound fraction. The relative percentages of bound FII before and during D treatment were similar. During D therapy, levels of FIX and X rose 50-100%, and protein c rose 20-25%, while free protein s did not change. D is an effective therapy for acquired FII deficiency associated with LA. D does not affect the binding of Ig to FII, but D raises FII levels by increasing synthesis of the FII protein.- - - - - - - - - - ranking = 5keywords = antigen (Clic here for more details about this article) |
8/8. Discoid lupus erythematosus associated with a primary immunodeficiency syndrome showing features of non-X-linked hyper-IgM syndrome.Hyper-IgM (HIM) syndrome is a rare primary immunodeficiency disorder. Approximately 120 cases have been described in the literature world-wide. Features of HIM include low serum IgG, a very low IgA with normal or high IgM levels. Autoimmune phenomena are recognized associations but connective tissue disorders have so far not been described in HIM patients. We report the case of a 19-year-old Indian woman with an immunodeficiency syndrome characteristic of non-X-linked HIM who developed discoid lupus erythematosus. Anti-double-stranded dna antibodies were negative. Antibodies to extractable nuclear antigens were positive for Ro and nRNP, with evidence that they were of both IgG and IgM class. Treatment with hydroxychloroquine and topical steroids was successful.- - - - - - - - - - ranking = 1keywords = antigen (Clic here for more details about this article) |