1/11. Lymphocytic hypophysitis associated with dacryoadenitis: an autoimmunologically mediated syndrome.We report a rare case of lymphocytic hypophysitis followed by dacryoadenitis. Lymphocytic hypophysitis is a rare disease that can easily be mistaken for neoplastic proliferation. Because combination with rheumatoid arthritis, thyroiditis, or pernicious anemia is frequent, an immunological pathogenesis is likely.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/11. Cogan's syndrome: an oculo-audiovestibular disease.Typical Cogan's syndrome is a rare disease of young adults consisting of flares of interstitial keratitis and sudden onset of Meniere-like attacks (nausea, vomiting, tinnitus, vertigo and hearing loss). Life-threatening aortic insufficiency develops in 10% of reported cases. Atypical Cogan's syndrome (audiovestibular dysfunction with other types of inflammatory eye disease) is associated with vasculitis in 20% of cases and has a less favourable prognosis than typical Cogan's syndrome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/11. autoimmune lymphoproliferative syndrome: report of two cases and review of the literature.autoimmune lymphoproliferative syndrome (ALPS) is a rare disease occurring in childhood. Recently, it has been shown that heritable mutations in Fas or Fas ligand genes, which regulate lymphocyte survival by triggering apoptosis of lymphocytes, are the most frequent cause of ALPS. patients with ALPS frequently have lymphadenopathy, splenomegaly and hepatomegaly, especially at young ages. A positive result of the Direct Coomb's test, autoimmune hemolytic anemia, and idiopathic thrombocytopenic purpura are the most common features of autoimmunity in patients with ALPS. Elevated numbers and percentages (>1%) of double-negative (CD4-CD8-) T cells, and characteristic pathologic findings in lymph nodes or spleen are other important diagnostic features. In this report, we present the clinical, immunologic, and pathologic features of two children who were diagnosed with ALPS. The early recognition of ALPS in children with enlarged lymph nodes, hepatosplenomegaly, and autoimmune hematologic features has important diagnostic and prognostic value in avoiding expensive and time-consuming studies and unnecessary treatments. The ratio of CD4-CD8- T cells, immunoglobulin levels and the histopathologic features of lymph nodes should be rapidly determined in these patients in order to establish an early diagnosis and treatment.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/11. Autoimmune hemolytic anemia in a patient with primary ovarian non-Hodgkin's lymphoma.The primary ovarian lymphoma is a rare disease with poor prognosis. The incidence of autoimmune hemolytic anemia in patients with non-Hodgkin's lymphoma is estimated at 3%. However, a substantial portion of the previously reported cases of ovarian lymphoma actually represented ovarian involvement by more diffuse lymphomatous process. If stringent criteria are used for case selection, true primary ovarian lymphoma usually carries a favorable prognosis. We present a primary malignant lymphoma of ovary accompanied by autoimmune hemolytic anemia in a 29-yr-old patient. After ablative surgery, the hemoglobin level and the reticulocyte count were normalized. One year following surgery and chemotherapy, the patient is alive and disease free.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/11. epidermolysis bullosa acquisita, a rare late complication of allogeneic bone marrow transplantation?We report a rare disease of skin and oropharyngeal mucosa in a 28-year-old patient occurring 2 years after an allogeneic bone marrow transplantation. The dermatologic diagnosis was unambiguously epidermolysis bullosa acquisita according to the immunofluorescence and clinical presentation. Treatment with cyclosporin A and prednisone resulted in resolution. This autoimmune skin disease may be a manifestation of graft-versus-host disease, but the relationship must remain speculative.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/11. danazol therapy for cyclic thrombocytopenia.Cyclic thrombocytopenia is a rare disease characterized by cyclic oscillations of platelet counts from very low to normal or higher. Severe hemorrhage may occur during the thrombocytopenic phase. To date, treatments for this disorder have been disappointing. Its pathophysiology is unknown. We report a successful outcome using danazol therapy. Prior to danazol treatment, the patient had a 7 year history of cyclic thrombocytopenia, refractory to glucocorticoids, splenectomy, azathioprine, vinca alkaloids, plasma infusions, and hormonal manipulation with Premarin-Provera. Her platelet counts were found to be oscillating in a 21 day cycle between 1 x 10(9)/L and 500 x 10(9)/L. Platelet-associated antibodies were positive and chromium-labeled platelet survival time was shortened. Following 2 months of danazol therapy, her platelet counts at the nadirs were significantly higher than at previous nadirs, and at no time thereafter dropped to the critically low values seen before danazol. Also at 2 months of danazol treatment, the patient reported amelioration of petechiae, and at 9 months it was completely cleared. However, platelet-associated IgG remained positive and platelet counts continued to oscillate, typically between 100 x 10(9)/L and 300 x 10(9)/L in the second year, but stabilized at 3 years, when platelet-associated IgG also disappeared. danazol was discontinued after 3.5 years. The patient remains in unmaintained remission today, approximately 5 years after discontinuance of danazol. It can be argued that the long-term outcome was due to spontaneous remission. However, significant improvement was noted from the outset of danazol therapy, and further improvement with long-term therapy, as seen in the response of chronic ITP to danazol therapy. danazol may offer lasting benefit in cyclic thrombocytopenia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/11. Lymphocytic hypophysitis. The clinical spectrum of the disorder and evidence for an autoimmune pathogenesis.Lymphocytic hypophysitis, a rare disease hitherto restricted to women, usually presents with symptoms of hypopituitarism in relationship to pregnancy. Two patients who developed pituitary insufficiency from lymphocytic hypophysitis are described. In the first, visual deterioration due to chiasmal compression from hypophysitis arising in ectopic pituitary tissue responded to bromocriptine and corticosteroids. In the second, an insidious onset of hypopituitarism occurred over 5 years in an elderly male. Combined HLA and complement typing confirmed that both patients shared MHC class I, II and III alleles. These class II and III alleles have been described in association with Hashimoto's thyroiditis and insulin-dependent diabetes mellitus (IDDM), both of which may be associated with antipituitary antibodies. The features of these two cases extend the known clinical and pathological spectrum of this disease and, through identifying a common immunogenetic background, provide a possible link between the previous associations of this disorder and autoimmune thyroid disease and IDDM.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/11. polymyositis/dermatomyositis associated with dermatitis herpetiformis.We describe 2 patients with dermatitis herpetiformis who developed polymyositis/dermatomyositis. On HLA typing, both patients were found to be HLA-B8, DR3 positive. The concurrence of these two relatively rare diseases, both associated with immunologic abnormalities, further supports the role of autoimmunity in their pathogenesis and indicates a possible common genetic basis. It also suggests that myositis may be more common in patients with dermatitis herpetiformis than in the general population.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/11. Autoimmune oophoritis.A 43-year-old para 3 woman presented with a six-year history of progressive oligomenorrhea and hypomenorrhea. A total abdominal hysterectomy with bilateral salpingo-oophorectomy was performed for the suspicion of ovarian cysts. On histologic examination, the ovaries contained lymphocytic and plasma cell infiltrates in relation to the theca interna of growing follicles, to the corpora lutea and to the endocrine hilar cells. The infiltrates increased in density with the follicular maturation and culminated against the corpora lutea. The plasma cell population was polyclonal. No antibodies to ovarian tissue components could be demonstrated in the patient's serum by means of immunohistochemistry; but antibodies to the zona glomerulosa of adrenal cortex were detected by serologic means. Although a rare disease, autoimmune oophoritis must be recognized histologically because it is a cause of ovarian failure and because it indicates that the patient is at risk of developing associated Addison's disease.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/11. epidermolysis bullosa acquisita in childhood.BACKGROUND: epidermolysis bullosa acquisita (EBA) is an autoimmune bullous disease characterized by the presence of antitype VII collagen antibodies, leading to the formation of bullae in the dermoepidermal junction. This disease is rare in childhood. OBSERVATIONS: We report 3 new cases of EBA in children. The 3 patients were similar; all 3 children were black, with a clinical phenotype resembling linear IgA bullous disease in children and typical histologic and immunologic features of EBA. In the 3 patients, diagnosis was proven using immune electron microscopy and Western blot analysis, where antitype VII collagen antibodies were demonstrated. patients 1 and 2 were successfully treated with a combination of prednisone and dapsone. In patient 3, the lesions healed without specific therapy. We found 11 other pediatric cases of EBA in the literature and studied those cases in addition to the cases presented herein to describe the characteristics of EBA in childhood. CONCLUSIONS: epidermolysis bullosa acquisita is a rare disease in childhood. Mucosal involvement is frequent and severe. Because the clinical features are misleading, the use of immune electron microscopy and Western blot analysis is essential to making a diagnosis. Treatment with a combination of prednisone and dapsone is often effective. The prognosis in children is better than it is in adult patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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