1/7. Extensive sterile abscess in an invasive fibrous thyroiditis (Riedel's thyroiditis) caused by an occlusive vasculitis.Riedel's thyroiditis is a rare disease determined by an invasive fibrosclerotic transformation of the thyroid gland. It may be one manifestation of multifocal fibrosis with still unknown etiology. Because it mimics carcinoma, a biopsy must be performed to get the correct diagnosis. The condition is self-limiting when confined to the neck. prognosis depends on the extent of extracervical fibrosclerosis. We present a patient with a huge cervical and mediastinal, unilateral thyroid mass expanding to the aortic curve, which led to tracheal deviation and compression with symptoms of stridor and dyspnea. These symptoms continued under a course of high-dose steroids; thus an operation was necessary to relieve the airway obstruction and limit inflammation. Intraoperative and pathological findings showed an inflammatory infiltration of the adjacent neck muscles and a sterile abscess caused by an occlusive vasculitis. Therefore, hemithyroidectomy had to be performed instead of a local limited resection.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/7. Treatment of sclerosing mesenteritis with corticosteroids and azathioprine.Sclerosing (idiopathic) mesenteritis is a rare disease that may present with abdominal pain or bowel obstruction. A 21-year-old man was diagnosed with sclerosing mesenteritis, and treated with a partial ileal resection and defunctioning ileostomy. He was subsequently started on corticosteroids and azathioprine. Five months later, at the time of ileostomy reversal, he was disease-free. The diagnosis and management of this disease are discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/7. Phlebosclerotic colitis coincident with carcinoma in adenoma.Phlebosclerosis of the colon is a rare disease characterized by a thickening of the wall of the colon with fibrosis, hyalinization and calcification to the affected veins. These symptoms result in a type of ischemic colitis known as phlebosclerotic colitis. A case of phlebosclerotic colitis coincident with carcinoma in adenoma is reported. A 74-year-old Japanese woman was admitted to hospital because of a mass in her right lower abdomen. Abdominal computed tomography examination revealed linear calcifications in the wall of the cecum and the ascending colon. colonoscopy revealed dark purple mucosa with multiple ulcers in the cecum and the ascending colon. biopsy specimens showed a marked hyalinous thickening of the wall of small blood vessels in the mucosa. Phlebosclerotic colitis was suspected because of negative results with amyloid stain. Alternative ileocolic angiography showed the serpentine of the peripheral nature blood vessels and pooling at the late venous phase. Microscopic examination of the surgically resected colon revealed mucosal and submucosal fibrosis, and a thickening of the venous wall with fibrosis, hyalinization and calcification from the mucosa to the serosa, which caused a marked luminal narrowing. A small polypoid lesion was also found in the affected region and was diagnosed histologically as carcinoma in adenoma. To our knowledge, this is the first reported case of phlebosclerotic colitis complicated by carcinoma.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/7. Scleromyxoedema: treatment of cutaneous and systemic manifestations with high-dose intravenous immunoglobulin.Scleromyxoedema is a rare disease characterized by cutaneous sclerosis, mucin deposition and paraproteinaemia. Internal disease is common, particularly musculoskeletal, gastrointestinal and central nervous system involvement. We report a series of three consecutive patients with scleromyxoedema treated with high-dose intravenous immunoglobulin (hdIVIg). Each of the three patients had relatively low levels of a highly basic IgG-lambda paraprotein, and each has demonstrated a sustained response of both their cutaneous and extracutaneous disease to hdIVIg. As all patients had perioral skin involvement and microstomia, one measure of cutaneous improvement was the increase in intraincisor distance. Extracutaneous manifestations of scleromyxoedema that improved included ureteral stricture, vocal strength and dysphagia.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/7. Idiopathic sclerosing peritonitis in a man.Idiopathic sclerosing peritonitis is a rare disease described in young adolescent women, characterized by fibrosis and adhesions of the peritoneum to loops of the small bowel. Here we describe a 35-year-old man who underwent exploratory laparotomy for repeated small bowel obstruction. Only partial resection of the terminal ileum was possible because of adhesions; recurrent abdominal infections and leakage from anastomosis required further resection, which ultimately resulted in short bowel syndrome and malabsorption. The clinical and pathological findings were characteristic for idiopathic sclerosing peritonitis. We review the relevant literature, to confirm, to the best of our knowledge, that this is the first report of a male patient who has developed this rare disease.- - - - - - - - - - ranking = 2keywords = rare disease (Clic here for more details about this article) |
6/7. Tumefactive fibroinflammatory lesion of the head and neck: a management strategy.Tumefactive fibroinflammatory lesions are rare, benign, fibrosclerosing masses in the head and neck that appear clinically as malignancies. Twenty-one cases have been described since first reported in 1975. While all authors agree on the lesion's histopathologic characteristics, multiple variations in appearance, treatment, and results have been reported. We review a case and compile all previously reported cases. Common sites of involvement were sinonasal tract (41%), neck (37%), and parotid (23%). Symptoms frequently reported were pain (50%) and hard mass (55%). Five patients (23%) eventually developed extra-head and neck fibrosclerosing lesions. Treatments have included surgery, radiation, and corticosteroids, occasionally in combination. Results have varied depending on size and location of lesion. Based on this review, a discussion of this rare disease and recommendations regarding diagnosis and treatment are given.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/7. Antemortem diagnosis of Balo concentric sclerosis: correlative MR imaging and pathologic features.PURPOSE: To report a case of a rare demyelinating disease called Balo concentric sclerosis. MATERIALS AND methods: A 32-year-old woman had left hemiparesis that progressed to hemiplegia, hemihypesthesia, and left hemianopsia. Laboratory evaluation was notable only for a mildly elevated erythrocyte sedimentation rate and an elevated level of myelin basic protein in cerebrospinal fluid. RESULTS: The antemortem diagnosis was made on the basis of magnetic resonance (MR) imaging of the brain, which showed numerous areas of concentric demyelination alternating with "spared" white matter. With the exception of a temporary improvement with high-dosage intravenous steroid therapy, the clinical course was monophasic and relentless, leading to death approximately 1 year after the onset of symptoms. Pathologic examination helped confirm the diagnosis. CONCLUSION: Because MR imaging shows alternating ringlike lesions involving the deep and superficial white matter, which correspond to pathologic findings, it may play a central role in antemortem diagnosis of this rare disease, leaving more invasive diagnostic procedures for evaluation of equivocal cases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |