1/15. histiocytosis X: a case report.The rare disease entity of histocytosis X is presented. Features of unusual interests in the present case were the bilateral exophthalmus as the presenting sign, fever, ottorhoea and involvement of lung and long bones.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
2/15. Langerhans' cell histiocytosis with bilateral temporal bone involvement.BACKGROUND: Langerhans' cell histiocytosis (LCH) is a rare disease with variable clinical appearance. The etiology of LCH remains unclear to date. It is currently believed that clonal accumulation and proliferation of CD1a-positive Langerhans' cells are causative. methods: A 2-year-old boy presented with hypacusis and disturbance of balance. Auditory brainstem-evoked responses (ABRs) revealed severe bilateral labyrinthine hearing loss. magnetic resonance imaging (MRI) showed inflammatory changes with bone erosion in both temporal bones including labyrinthine systems and mastoid processes. RESULTS: During bilateral surgical exploration, fragile slightly yellowish tissue with necrotic areas was found that turned out to be LCH on histology. Chemotherapy with vinblastine and prednisone was subsequently initiated, leading to continuing complete remission. CONCLUSIONS: The initial presentation of LCH with bilateral temporal bone involvement is a very rare condition. The signs and symptoms of otologic histiocytosis can mimic those of acute and chronic infectious ear disease. Only a surgically obtained biopsy leads to definitive diagnosis and appropriate therapy.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
3/15. Spontaneous resolution of lumbar vertebral eosinophilic granuloma.eosinophilic granuloma (EG) is a rare disease but is more common in adults than children. It's often self-limiting. Spinal involvement is rare. It is the localized and most benign form of Langerhans' cell histiocytosis (previously known as histiocytosis X), characterised by lytic lesions in one or more bones. Spontaneous resolution of vertebral body lesions is very rare. In this case, the patient had one EG in a cervical vertebra and a similar lesion in a lumbar vertebra. This case is important because it featured a symptomatic lesion in the cervical spine accompanied by an asymptomatic lesion in a lumbar vertebra. We treated the cervical lesion by surgical fusion and followed the lumbar lesion up conservatively, with the patient in a corset. After 8 years of follow-up, control MRI showed that the lumbar lesion had spontaneously resolved.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
4/15. Difficulties in the diagnosis of rare immunological diseases manifesting with cystic lung disease and spontaneous pneumothorax: case reports.Pulmonary lymphangioleiomyomatosis (LAM) is a rare disease of an unknown cause affecting women of reproductive age and characterised by smooth muscle proliferation along lung lymphatic channels. pneumothorax develops in up to 80% of patients with LAM and may be the presenting manifestation of the disease. pneumothorax also precedes or complicates the clinical course of 25% of patients with Langerhans'-cell histiocytosis (LCH, histiocytosis X) pathologically characterised by involved tissue infiltration with large numbers of unusual Langerhans' cells, often organised as granulomas. A 41-year-old female patient was treated twice by simple tube drainage due to left pneumothorax in 1996. She was then diagnosed with chronic obstructive lung disease demonstrating with dyspnea, cough and wheeze. Abnormalities found in the high-resolution computed tomography (HRCT) scanning were characteristic of LAM with thin-walled parenchymal cysts distributed homogeneously in both lungs and with thickening of interlobular septa. A 38-year-old man was hospitalised due to chronic lung failure in the course of LCH characterised by small, poorly limited nodular lesions and thin-walled cysts revealed in HRCT scans. For two years of observation, he has suffered five episodes of right pneumothorax. When diagnosing pneumothorax in the middle-age patients, the possible cause of the disease is LAM or LCH. The use of HRCT scanning may enable good determination of the nature and distribution of parenchymal abnormalities found in the diseases.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
5/15. Spontaneous gonadotrophin deficiency recovery in an adult patient with Langerhans cell histiocytosis (LCH).Langerhans cell histocytosis (LCH) is a rare disease which exhibits a particular predilection for pituitary involvement leading to diabetes insipidus (DI) and other anterior pituitary hormonal deficiencies that are usually permanent and unresponsive to treatment. We report a 35 year old woman with a 10 year history of multisystemic LCH who developed DI, mild hyperprolactinemia, gonadotrophin and partial growth hormone deficiency following a normal delivery that was accompanied with infundibular thickening on pituitary magnetic resonance imaging (MRI). Following several courses of glucocorticoid administration, that were not associated with any substantial improvement, the patient was started on estrogen replacement therapy and cabergoline. After a three year period free of further relapses she developed irregular uterine bleeding. Following estrogen and cabergoline discontinuation she resumed normal menstruation while a repeated MRI of the pituitary showed an almost normal infundibulum. Endocrine investigation revealed normal gonadotrophin axis and prolactin levels, while the patient continues to menstruate, every 30-40 days, ten months after the resumption of her menstrual cycle. This case demonstrates for the first time that LCH induced pituitary deficiencies can run a variable clinical course and even spontaneously recover.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
6/15. diagnosis of nodal Langerhans cell histiocytosis by fine needle aspiration cytology.Langerhans cell histiocytosis (LCH) is a rare disease and disease confined to the lymph nodes is even more uncommon. Fine needle aspiration (FNA) cytology of LCH of the lymph nodes has rarely been described. A case study of LCH of the lymph nodes in a 23-year-old man is presented. FNA smears showed high cellularity composed of many isolated langerhans cells (LCs) with nuclear grooves admixed with numerous eosinophils, lymphocytes, giant cells, macrophages, and neutrophils. Further immunohistochemical study of the excised lymph node sections revealed that the histiocytes were positively stained with CD1a. The presence of LCs with nuclear grooves and eosinophils suggests the possibility of LCH. FNA cytology is a valuable method for diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
7/15. liver involvement in Langerhans' cell histiocytosis. Case report.Langerhans'cell histiocytosis (histiocytosis X) is a rare disease of unknown cause characterized by oligoclonal proliferation of langerhans cells. It occurs mostly in children and young adults and involves one or more body systems such as bone, hypothalamus, posterior pituitary gland, lymph nodes, liver or various soft tissues.The diagnosis is always made by a histological approach.We report a case of Langerhans'cell histiocytosis in a young patient with clinical signs of diabetes insipidus and hepatic involvement in whom the immunohistochemical analysis of the liver tissue led to the definitive diagnosis.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
8/15. langerhans cell sarcoma arising from Langerhans cell histiocytosis: a case report.langerhans cell sarcoma (LCS) is a neoplastic proliferation of langerhans cells that have overtly malignant cytologic features. It is a very rare disease and theoretically, it can present de novo or progress from an antecedent Langerhans cell histiocytosis (LCH). However, to our knowledge, LCS arising from an antecedent LCH has not been reported on. We present here a case of LCS arising from a pulmonary LCH. A 34 yr-old man who was a smoker, had a fever and a chronic cough. Computed tomographic (CT) scan revealed multiple tiny nodules in both lungs. The thoracoscopic lung biopsy revealed LCH. The patient quit smoking, but he received no other specific treatment. One year later, the follow up chest CT scan showed a 4 cm-sized mass in the left lower lobe of the lung. A lobectomy was then performed. Microscopic examination of the mass revealed an infiltrative proliferation of large cells that had malignant cytologic features. Immunohistochemical stains showed a strong reactivity for S-100 and CD68, and a focal reactivity for CD1a. We think this is the first case of LCS arising from LCH.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
9/15. histiocytosis X: current concepts and a report of two cases.The current concepts of histiocytosis X are discussed, and the literature concering this rare disease of obscure aetiology reviewed. Two case reports of histiocytosis X presenting in similar sites in young children of similar ages, but with markedly different courses, are presented. The importance of early recognition of the disease, particularly by the dental surgeon who may see the first oral signs, is stressed. attention is drawn to the danger of misdiagnosing the oral signs of histiocytosis X, particularly as periodontal disease. The possible aetiologies are examined and current treatment regimes discussed.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
10/15. histiocytosis X: otologic presentations.histiocytosis X is a relatively rare disease presenting as 3 clinical syndromes: eosinophilic granuloma, hand-Schuller-Christian disease, and Abt-Letterer-Siwe disease. Although the clinical expressions of the disease differ, the underlying histopathology appears to be the same. Since the disease frequently involves and not infrequently presents in the head and neck region, it is particularly relevant to the otolaryngologist. We have recently treated two young children presenting with bilateral otorrhea. Although histiocytosis X was entertained early in the evaluation of these patients, the diagnosis was difficult and prolonged in both cases. One case ultimately required electron microscopic study to confirm the diagnosis. Important aspects of the diagnosis are reviewed. Treatment of histiocytosis X includes surgery, radiation therapy and chemotherapy. These treatment strategies are discussed, with particular emphasis on the management of the ear involvement.- - - - - - - - - - ranking = 1keywords = rare disease (Clic here for more details about this article) |
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