1/7. Pseudoscleroderma associated with lung cancer: correlation of collagen type i and connective tissue growth factor gene expression.Pseudoscleroderma as a paraneoplastic syndrome is a rare disease. We report here a patient with lung cancer (undifferentiated squamous cell carcinoma), who developed acrosclerosis. Using in situ hybridization, marked expression of alpha1(I)-collagen and connective tissue growth factor (CTGF) mRNA was found in fibroblasts scattered throughout the dermis. However, transforming growth factor (TGF)-beta1 expression was not detected. The pattern of CTGF gene expression and collagen synthesis was similar to that in systemic scleroderma. The absence of TGF-beta1 mRNA could indicate that tumour-derived factors induce the expression of CTGF.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Acrokeratosis paraneoplastica (Bazex syndrome) with adenocarcinoma of the colon: report of a case and review of the literature.Acrokeratosis paraneoplastica is a rare disease and is uncommon even in patients with upper aerodigestive tract cancer. We report a 63-year-old man with a 1-month history of numerous pruritic lesions and vesicles on both feet. Although he had received local therapy, progressive dense scale formation involving both palms and both soles was found. colonoscopy was performed because of hematochezia, and it revealed an early colon cancer. After the resection of the cancer, the skin lesions began to fall off dramatically. To the best of our knowledge, there is no report of acrokeratosis paraneoplastica associated with colon cancer in the literature. This is the first case report of acrokeratosis paraneoplastica associated with early colon cancer.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. rhabdomyolysis and paraneoplastic stiff-man syndrome with amphiphysin autoimmunity.Stiff-Man syndrome (SMS) is a rare disease of the central nervous system characterized by chronic muscle rigidity and autoimmunity directed against synaptic antigens. In a subset of patients, generally positive for antiamphiphysin autoantibodies, SMS has an autoimmune paraneoplastic origin. Amphiphysin isoforms are expressed at high levels in brain and skeletal muscle and often are overexpressed in breast cancer. We report here the occurrence of rhabdomyolysis in a patient with SMS, breast cancer, and antibodies that recognize both brain and muscle amphiphysin isoforms. immunotherapy induced a remission of both rhabdomyolysis and SMS symptoms. Autoimmune rhabdomyolysis may represent a paraneoplastic complication of cancer patients with amphiphysin autoimmunity.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Stiff man syndrome with thymoma.Paraneoplastic stiff man syndrome with a thymoma is rare disease. We treated a 57-year-old woman with a type B1 thymoma, based on the world health organization classification, who had stiff man syndrome. Her symptoms were alleviated after a thymectomy. Herein we report a case of stiff man syndrome with a thymoma and also review three cases reported previously.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Acute febrile neutrophilic dermatosis and abnormal bone marrow chromosomes as a marker for preleukemia.Acute febrile neutrophilic dermatosis or Sweet's syndrome is a rare disease, which occasionally is seen in patients with myeloid leukemia. We present a case of Sweet's syndrome in a patient with an abnormal chromosome pattern in bone marrow aspirate. Initially the patient had flu-like symptoms with high fever. Two weeks later raised, erythematous and painful plaques appeared on the skin. Various antibiotics were ineffective, but the symptoms vanished after administration of prednisone. Six months later a fulminant acute myeloid leukemia developed, the course of which was complicated by a fatal subdural bleeding. It is concluded that Sweet's syndrome may be a cutaneous sign of a neoplastic myeloid proliferation and that a complete hematological examination including chromosome analysis is mandatory in these patients.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/7. autoantibodies to a 128-kd synaptic protein in three women with the stiff-man syndrome and breast cancer.BACKGROUND. The stiff-man syndrome is a rare disease of the central nervous system characterized by progressive rigidity of the body musculature. autoantibodies directed against glutamic acid decarboxylase are present in about 60 percent of patients with the syndrome. In this group, there is a striking association of the stiff-man syndrome with organ-specific autoimmune diseases, primarily insulin-dependent diabetes mellitus. methods. We studied three women with the stiff-man syndrome and breast cancer, seeking autoantibodies directed against nervous system antigens in serum and cerebrospinal fluid by immunocytochemical techniques, Western blotting, and immunoprecipitation. RESULTS. autoantibodies directed against a 128-kd brain protein were found in two of the women with the stiff-man syndrome and breast cancer. These results led to a search for breast cancer in the third patient with the stiff-man syndrome, who also had autoantibodies. A small invasive ductal carcinoma was detected by ultrasonography and removed. serum samples from all three patients were negative for autoantibodies directed against glutamic acid decarboxylase. autoantibodies against the 128-kd antigen were not detected in control patients with the stiff-man syndrome without breast cancer or in patients with cancer who did not have the syndrome. Within the nervous system, the 128-kd autoantigen was localized in neurons and concentrated at synapses. CONCLUSIONS. In a subgroup of patients with the stiff-man syndrome, the condition is likely to have an autoimmune paraneoplastic origin. The detection of autoantibodies against the 128-kd antigen in patients with this syndrome should be considered an indication to search for an occult breast cancer.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. Morvan's fibrillary chorea: a paraneoplastic manifestation of thymoma.Morvan's fibrillary chorea is a rare disease characterised by symptoms which include neuromyotonia, cramping, weakness, pruritis, hyperhidrosis, insomnia, and delirium. The first case of Morvan's fibrillary chorea to be associated with clinical manifestations of myasthenia gravis with thymoma, psoriasis, and atopic dermatitis is reported. Muscle histopathology disclosed chronic denervation and myopathic changes and in vitro electrophysiology demonstrated both presynaptic and postsynaptic defects in neuromuscular transmission. serum antibodies to acetylcholine receptors, titin, N-type calcium channels, and voltage gated potassium channels were detected. plasmapheresis, thymectomy, and long term immunosuppression induced a dramatic resolution of symptoms. The association of thymoma with other autoimmune disorders and autoantibodies, and prolonged and sustained remission with chronic immunosuppression, place Morvan's fibrillary chorea on the range of neurological diseases arising as a paraneoplastic complication of cortical thymomas.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |