1/29. Clinical stable systemic mastocytosis with interferon alpha-2b therapy.Systemic mastocytosis (SM) with progressive infiltration of various organs by mast cells is a rare disease with a mean survival of 2 years. So far there is no established therapy. We describe a patient with progressive mastocytosis who had a clinical response to interferon alpha-2b 3 x 5 Mio U s.c. three times a week. The response is stable 3 years after initiation of therapy and includes reduction of abdominal lymphadenopathy, ascites, decrease of serum and urinary histamine levels as well as pulmonary reticulonodular markings.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/29. McCune-Albright syndrome with fibrous dysplasia of the paranasal sinuses.We report a 19-year old female patient with the McCune-Albright syndrome, which is a rare disease consisting of polyostotic fibrous dysplasia (FD) of bone associated with brown pigmented areas of the skin and several endocrine dysfunctions. The patient had FD involving the paranasal sinuses, the middle turbinate and the skull. The endocrine dysfunction of the patient concerns both growth hormone and prolactin hypersecretion. Because the patient had no major symptoms, neither surgical nor medical treatment was applied. Five-year follow-up revealed no complication and enlargement of the lesion.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/29. Grzybowski's generalized eruptive keratocanthomas: a case report.A 47-year old woman with Grzybowski's generalised eruptive keratoacanthomas is described. There was no history of skin disease in her family, except for an uncle's basal cell carcinoma. From 1995 she developed multiple lesions of various size, ranging from hundreds of small follicular lesions to large typical keratoacanthomas up to 5 cm in diameter, scleroderma-like facial skin and marked ectropion. Histological examination of small and large skin lesions was typical of keratoacanthoma, and no human papillomavirus was detected by polymerase chain reaction. Oral treatment with acitretin had no effect. Both cyclophosphamide and methotrexate therapy were refused by the patient despite the progressive course of the disease. Blepharoplastic surgery had some effect on eye symptoms. The etiology of this rare disease is unknown, but is probably related to some genetic defect.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/29. Fatal tetanus in a drug abuser with "protective" antitetanus antibodies.tetanus is a rare disease in the united states. From 1995-1997, the average annual incidence of tetanus was 0.15/1,000,000 population. Injecting-drug users, particularly those who use heroin, are among the highest risk population for acquiring tetanus. We present a case of an injecting-drug user who was seen in the emergency department with worsening diffuse midthoracic back pain and spasms. He subsequently developed acute respiratory failure and central nervous system hypoxic injury. serum obtained before administration of tetanus immune globulin showed a tetanus antibody titer greater than 16 times the level considered protective. Because of limited human data on the minimum protective level of neutralizing antibody, as well as reports of tetanus among individuals with "protective" antibody titers, the diagnosis of tetanus should not be excluded solely on the basis of antitetanus titers.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/29. Eosinophilic fasciitis--progression to linear scleroderma: a case report.Eosinophilic fasciitis is a rare disease in children. Although changes similar to linear scleroderma have been reported, the outcome is usually good. In this report, a 10-year-old boy who developed eosinophilic fasciitis without a good response to steroids is presented. He progressed to linear scleroderma within months. Our case reinforces the hypothesis that eosinophilic fasciitis may be an early manifestation or a variant of localized scleroderma similar to the other cases in the literature.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/29. Primary renal lymphoma does exist: case report and review of the literature.Primary renal lymphoma (PRL) is a controversial and rare disease and there is still no agreement on its existence. Many cases have been reported in the literature, but clear diagnostic criteria have not yet been established. Most of the reported cases are questionable because of incomplete staging or the presence of extrarenal disease. Here we report a new case and a review of the literature based on a critical examination of the diagnostic procedure. Thus, probably only 29 cases, ours included, should be recognized as PRL, because only these cases fulfil the three diagnostic criteria and underwent complete diagnostic screening, including renal biopsy, bone marrow biopsy and thoraco-abdominal computerised tomography (CT).- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/29. Aggressive multiple myeloma presenting as mesenteric panniculitis.Mesenteric panniculitis is a rare disease of the bowel mesentery, characterized by tumor-like infiltration by chronic inflammatory cells, fat necrosis, and fibrosis. Reported cases cited clinical presentation ranging from abdominal pain to fever of unknown origin, the majority of which were idiopathic and associated with a benign prognosis. We report the case of a 43-yr-old male who presented with malaise, weight loss, microcytic anemia, and a high erythrocyte sedimentation rate. Radiographic and histological investigations revealed typical features of mesenteric panniculitis. Initial treatment with high-dose oral prednisolone led to rapid and complete resolution of symptomatology, radiographic, and laboratory anomalies. Within 6 months, the patient presented again with anemia, renal failure, and hypercalcemia. A diagnosis of IgA kappa chain myeloma was made. Despite chemotherapy and restoration of normocalcemia, he died from refractory pulmonary edema. This is the first report of a hematological malignancy initially presenting with features of mesenteric panniculitis culminating in an aggressive course and a fatal outcome.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/29. Integration of amplified BCR/ABL fusion genes into the short arm of chromosome 17 as a novel mechanism of disease progression in chronic myeloid leukemia.We describe the cases of two patients with philadelphia chromosome-positive chronic myeloid leukemia (CML), in whom the extramedullary blastic phase developed during disease progression. The similar clinical presentations of these patients was accompanied by gain of identical secondary chromosome abnormalities, that is, monosomies 9, 14, and 22, and by a clustered amplification of the BCR/ABL fusion gene. The additional copies of the BCR/ABL fusion gene were integrated into the short arm of structurally abnormal chromosomes 17 in both patients. The conformity of these genetic features in two patients with a rare disease manifestation leads us to the assumption that either the clustered amplification of the BCR/ABL fusion gene or the integration of this cluster into the short arm of chromosome 17 or both are associated with extramedullar disease progression in CML. Furthermore, the insertion of amplified BCR/ABL fusion genes into structurally abnormal chromosomes provides a novel mechanism of disease progression in BCR/ABL-positive CML.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/29. Idiopathic spinal cord herniation: report of eight cases and review of the literature.STUDY DESIGN: A case series of eight patients with idiopathic spinal cord herniation and a review of the literature. OBJECTIVE: To report on this rare entity, provide insight on its natural history, and propose an optimal management strategy. SUMMARY OF BACKGROUND DATA: Idiopathic spinal cord herniation is a rare disease with 50 cases reported before the current study. methods: Eight cases (follow-up 1 month to 8 years) are reported using available information from patient charts, interviews, and assessments. All imaging studies are reviewed. The review of the literature was performed using pubmed. RESULTS: Four patients, followed without surgical intervention, have not progressed. Of the three patients who underwent surgical repair by one of the authors, two improved and one was unchanged. A fourth patient, who was initially treated by another surgeon who failed to identify the dural defect and herniation, had a poor outcome. CONCLUSION: The pathophysiology of the dural defect is still uncertain. The typical presentation is brown-sequard syndrome. Microsurgical repair in cases with progression of neurologic deficits is usually successful in achieving recovery of function or arrest of progression.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/29. Parry-Romberg syndrome with migraine and intracranial aneurysm.Parry-Romberg syndrome or progressive facial hemiatrophy (PFH) is a rare disease of unknown etiology characterized by atrophy of the skin and subcutaneous tissue on one side of the face. The authors present the case of a 32-year-old woman with PFH who had migraine and an intracranial aneurysm. The findings support the hypothesis that the disease could be related to a neural crest migration disorder, from which both fronto-nasal mass and cranial vessels take origin.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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