1/37. Cyclic neutropenia complicated by renal AA amyloidosis.Cyclic neutropenia is a rare disease characterized by regular cyclic fluctuations in the numbers of neutrophils. patients with the disease suffer from recurrent infections at regular intervals of nearly three weeks. Recently, recombinant human granulocyte colony-stimulating factor (rhG-CSF) was reported to be an effective treatment for this disease. here we describe 17-year-old cyclic neutropenic female patient with a very rare association of renal amyloidosis of AA type who was under intermittent rhG-CSF treatment for the previous one and a half years. We conclude that although the disorder is usually benign, reactive amyloidosis may rarely develop in cases who remain untreated for a long period of time. However familial mediterranean fever (FMF) type II should also be born in mind, particularly in predisposed populations.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/37. Surgical management of localized amyloidosis.OBJECTIVE: To demonstrate the role of two-dimensional reconstruction images on computed tomography (CT) in the treatment planning for laryngeal amyloidosis. To discuss the treatment for isolated laryngeal amyloidosis and compare the role of endoscopic versus an open surgical approach to management. STUDY DESIGN: Retrospective review. methods: The medical records from 1984 to the present with the diagnosis of localized respiratory tract amyloidosis at Geisinger Medical Center were reviewed. RESULTS: Five previously unpublished cases of localized laryngeal amyloidosis were identified with the supraglottic region the major site of involvement. hoarseness and airway compromise were the presenting symptoms. CT two-dimensional reconstruction imaging was used to evaluate two cases with extensive laryngeal involvement that required an external surgical approach to relieve symptoms. CONCLUSIONS: Localized laryngeal amyloidosis is a rare disease that requires surgical management when symptomatic. CT two-dimensional reconstruction can be helpful in detailing the extent of disease and planning surgery. A lateral external supraglottic approach has been found to be successful in treating patients with large supraglottic masses.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/37. Primary bilateral mucosa-associated lymphoid tissue lymphoma of the breast with atypical ductal hyperplasia and localized amyloidosis. A case report and review of the literature.Primary non-Hodgkin lymphoma of the breast is a rare disease. Primary mucosa-associated lymphoid tissue lymphoma is even rarer, and bilateral involvement is exceptional. We describe a case of primary bilateral breast mucosa-associated lymphoid tissue lymphoma with bilateral atypical ductal hyperplasia and bilateral localized amyloidosis in a 64-year-old woman with a history of arthritis and systemic lupus erythematosus and its clinical, histologic, and immunohistochemical features. Microscopic examination of the breast lesion showed dense periductal and perilobular small and plasmacytoid lymphocytes with eosinophilic amyloid in the vessels and the stroma. Bilateral single foci of atypical ductal hyperplasia were also noted. Fine needle aspiration showed small and large lymphocytes and plasma cells. Molecular analysis demonstrated a heavy chain immunoglobulin H gene rearrangement. flow cytometry studies showed an abnormal B-cell population. The combined histologic, paraffin immunohistochemistry, flow cytometry, and molecular results were considered diagnostic for low-grade mucosa-associated lymphoid tissue lymphoma. The patient underwent bilateral local breast radiation without other organ or site involvement.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/37. Nodular amyloidosis: case report and literature review.BACKGROUND: amyloidosis refers to a group of depositional diseases that are classified into two main types: systemic and localized. Large nodules of localized cutaneous amyloidosis of the nasal ala and surrounding skin are rare and the treatment is often unsatisfactory. OBJECTIVE: We report a case of rapidly enlarging, localized, nodular cutaneous amyloidosis of the nose and the surrounding skin with a brief review of the current literature regarding treatment of this rare disease. CONCLUSION: Nodular amyloidosis can be treated successfully with cold steel excision in combination with carbon dioxide laser. Close followup of these patients is warranted, as nodular amyloidosis may be the precursor to systemic amyloidosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/37. Primary amyloidoma of the thoracic spine presenting with acute paraplegia.BACKGROUND: Primary solitary amyloidoma of the spine is a rare disease characterized by localized deposition of amyloid. To the best of our knowledge, there have been only 14 cases previously reported in the literature. patients with focal spinal amyloidoma usually have relatively long symptomatic periods preoperatively, ranging from 3 weeks to 6 years (mean: 12 months). Only two reported patients had acute paraplegia. We add a third case of a thoracic spine amyloidoma presenting with acute paraplegia. CASE DESCRIPTION: A 65-year-old man presented with a three-day history of progressive paraplegia and urinary retention. He was found to have severe cord compression at T2 on magnetic resonance imaging. He underwent emergent decompressive laminectomy with instrumentation for spinal stabilization. Histopathology revealed abundant amyloid deposits. A systemic work-up was negative for amyloidosis. The patient showed marked neurological improvement with residual mild spastic gait after 1 year. CONCLUSIONS: Primary spinal amyloidoma with acute paraplegia is rare. One-stage surgery combining prompt decompression and stabilization of the spinal column is mandatory in cases of spinal amyloidoma with acute myelopathy, because primary solitary amyloidoma carries a good prognosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/37. Nodular cutaneous amyloidosis involving the glan penis: report of a case.Nodular cutaneous amyloidosis is a rare disease that predominantly affects women in their sixth and seventh decades. The genital organ is the rarest cutaneous location with only four reported cases of vulvar involvement. We report the first known case of this entity involving the glan penis. The clinical feature of nodular cutaneous amylodosis, the histopathology, the pathogenesis and the therapy are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/37. Pancreatic involvement in primary amyloidosis: radiologic findings.amyloidosis is a rare disease that can involve a great variety of organs. As a consequence, clinical and radiological manifestations are very different as well. We report on a patient with primary amyloidosis who presented with diffuse pancreatic involvement detected by ultrasound, helical CT, and MRI. There are very few imaging descriptions about this glandular involvement in amyloidosis in the literature. Despite the apparent uncommon radiological appearance, we believe that this entity should be taken into account in the differential diagnosis of diffuse infiltrative pancreatic lesions in the appropriate clinical and analytical setting.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/37. Primary diffuse tracheobrochial amyloidosis: case report.Respiratory amyloidosis is a rare disease that occurs in three forms: tracheobronchial, nodular parenchymal and diffuse parenchymal involment. Tracheobronchial amyloidosis is characterized by focal or diffuse deposition of amyloid in the submucosa of the trachea and proximal bronchi. Herein, we report a case of diffuse tracheobronchial amyloidosis with plain radiography and thorax computed tomography findings.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/37. A case of amyloid of the urethra and review of this rare diagnosis, its natural history and management, with reference to the literature.Primary localized genitourinary amyloid deposition is a rare disease that can be confused with cancer. Amyloid tumours of the urethra are exceptionally rare, with only 40 cases having been reported in the literature since 1909. A case is presented herein, with a full review of the presenting features, coexisting conditions and pathology and recommendations for treatment, based on the findings in previously reported cases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/37. jaw claudication in primary amyloidosis: unusual presentation of a rare disease.We describe two patients with temporal artery biopsy-proven amyloidosis presenting with symptoms of jaw claudication, visual disturbance, and proximal muscle stiffness suggestive of giant cell arteritis (GCA) and polymyalgia rheumatica. At the onset of disease, neither patient had other characteristic symptoms to suggest primary amyloid. We point out similarities between GCA and primary amyloid that can lead to confusion in diagnosis.- - - - - - - - - - ranking = 4keywords = rare disease (Clic here for more details about this article) |
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