Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0010200 (cough)
 23,843 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 2-yr and 9-month-old female patient with neurofibromatosis type-1 presented with hepatomegaly, anemia, thrombocytopenia, and croupy cough and diagnosed with xanthogranuloma disseminatum (XD). She failed chemotherapy consisting of steroids, 6-mercaptopurine and methotrexate. A partial response to HLH-94 therapy that included etoposide and cyclosporine A was initially observed. However, she continued to have significant organ dysfunction without further improvement at 6 months of therapy. She then received matched unrelated donor bone marrow transplantation (BMT) following carmustine, etoposide, cytarabine and melphelan conditioning with complete resolution of symptoms. BMT is an option in therapy-resistant, life threatening XD cases.
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PMID:Successful bone marrow transplantation for life threatening xanthogranuloma disseminatum in neurofibromatosis type-1. 1604 9

A 60-year-old Indian woman presented with multiple asymptomatic, firm swellings over the face that had been progressively increasing for the past 3.5 years. She complained of dry cough and dyspnea of 2 years' duration, which was diagnosed as interstitial lung disease (ILD) based on chest radiography and high-resolution computed tomography. Apart from occasional backaches, the patient had no other systemic complaints. The results of the general physical examination was normal, with no lymphadenopathy. Cutaneous examination revealed multiple (5) firm, yellowish to skin-colored well-defined nodules with irregular margins ranging in size from 1 x 1 cm to 4 x 8 cm present over the left periorbital region and right jawline, with overlying telangiectasias on the skin (Figure 1). On examination of the chest, she had generalized rhonchi and crepts; the remainder of the systemic examination results were normal. Fine needle aspiration cytology from the nodule in the periorbital area revealed a dispersed population of spindle cells, numerous foam cells, and giant cells suggestive of xanthogranuloma. Histopathology from the nodule on the jawline showed abundant foamy histiocytes in the dermis with few multinucleated giant cells and lymphocytes (Figure 2). The foamy histiocytes were periodic acid-Schiff-positive. On immunohistochemistry, histiocytes were CD68-positive. Findings of routine investigations including hemogram, peripheral blood smear, and blood chemistry were normal. Radiography of the lumbosacral spine showed mixed osteolytic and osteosclerotic lesions involving L5-S1, the left sacroiliac joint, and the left iliac blade. Findings from radiography of the long bones and skull were normal. Contrast-enhanced computed tomographic scan of the abdomen and pelvis showed areas of osteolysis, with marginal sclerosis present bilaterally that involved the iliac blades and the right half of the sacrum. A methylene diphosphate bone scan revealed increased tracer uptake seen at the fifth lumbar vertebrae, bilateral sacroiliac bone, and left iliac bone and areas of photopenia in sacrum. Bone marrow aspiration from the sternum showed normal cells with a normal erythroid-to-myeloid ratio. Ultrasonographic B scanning of the eyes showed no retro-orbital involvement. Erdheim-Chester disease was diagnosed in this patient on the basis of diagnostic histopathology, radiologic features involving bones, and ILD and treatment with 40 mg oral prednisolone daily was started. Surgical debulking of her skin lesions was planned, but the patient refused due to her worsening ILD.
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PMID:Erdheim-Chester disease with cutaneous features in an Indian patient. 1832 7

Histiocytic diseases caused by proliferation and accumulation of phagocytosing macrophages (foamy macrophages) have many clinical forms. These are classified under "juvenile xanthogranuloma" within the WHO classification of blood disorders. Localized forms with benign course include normolipaemic xanthomatosis, xanthogranuloma and necrobiotic xanthogranuloma. Disseminated forms in children take a form of so called "disseminated juvenile xanthogranuloma" or Erdheim-Chester disease in adults. We describe a case of a patient who, at 53 years of age, first noticed yellow granulomas on her eyelids. The disease progressed gradually and, at 59, affects the eyelids as well as their closest surroundings. According to MR and PET-CT, the disease gradually infiltrated the inside of the orbit, orbital fat as well as extraocular muscles and started to cause exoftalmus of one of the eyes. Propagation of the xanthogranuloma into the orbit and infiltration of extraocular muscles might impair eye function. Over the last year, the patient complained of cough. Pulmonary function evaluation confirmed recent asthma bronchiale. These findings correspond to periocular xanthogranuloma associated with adult-onset asthma. No other abnormities have been shown in this patient. Exoftalmus was observed in 2011 after 6 years of monitoring with very slow progression of eyelid and extraocular infiltration. Therefore, prednisone was initiated in 2011, leading to cessation of exoftalmus. It is not known at present whether this is a permanent improvement with a suppression of histiocytary proliferation or whether this was a temporary improvement due to suppression of inflammatory changes in the xanthogranuloma with no effect on histiocytary proliferation. Progression during therapy with corticosteroids would warrant cytostatic treatment. The discussion section provides an overview of diseases caused by foamy histiocytes with illustrations and an overview of experiences with their treatment.
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PMID:[Eyelids with yellow granulomas and cough - periocular xanthogranuloma associated with adult-onset asthma. A case study and an overview of clinical forms of juvenile xanthogranuloma and its therapy]. 2274 85

An association between juvenile xanthogranuloma (JXG), neurofibromatosis type 1 (NF1), and juvenile myelomonocytic leukemia (JMML) has been described in the literature but has only been documented in approximately 20 cases. We diagnosed a patient with NF1 at 25 months of age, before any cutaneous stigmata of this disease had appeared, because we decided to screen for the NF1 gene mutation because of his presentation with multiple JXGs and moderate macrocephaly (2.5 standard deviations) at 9 months of age and JMML diagnosed at 20 months of age. The child is well today after treatment with chemotherapy and allogenic bone marrow transplantation. With increased awareness, patients with JXG and NF1 who develop symptoms possibly related to JMML, such as paleness, skin bleeding, cough, unexplained fever, and hepatosplenomegaly, should be further evaluated. We also emphasize that multiple JXG lesions can be an early marker of NF1.
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PMID:Neurofibromatosis type 1 diagnosed in a child based on multiple juvenile xanthogranulomas and juvenile myelomonocytic leukemia. 2551 72