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Search Results (3)

Search Parameters:
Keywords = Von Recklinghausen disease

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2 pages, 533 KiB  
Case Report
A Case Report of Acute Myeloid Leukemia and Neurofibromatosis 1
by Chiara Sartor, Cristina Papayannidis, Maria Chiara Abbenante, Antonio Curti, Nicola Polverelli, Emanuela Ottaviani, Ilaria Iacobucci, Viviana Guadagnuolo and Giovanni Martinelli
Hematol. Rep. 2013, 5(2), e8; https://doi.org/10.4081/hr.2013.e8 - 3 Jul 2013
Cited by 1
Abstract
We report a case of a 65-year old patient affected by neurofibromatosis 1, documented by the presence of germ-line mutation on the NF1 gene, who developed various hyperproliferative malignant and benign diseases. He was brought to our attention for the diagnosis of acute [...] Read more.
We report a case of a 65-year old patient affected by neurofibromatosis 1, documented by the presence of germ-line mutation on the NF1 gene, who developed various hyperproliferative malignant and benign diseases. He was brought to our attention for the diagnosis of acute myeloid leukemia revealed by major fatigue and dyspnea. The disease characteristics at diagnosis were hyperleukocytosis and complex karyotype with the inversion of the chromosome 16, classifying as a high-risk leukemia. The association between leukemia and neurofibromatosis 1 is controversial and needs to be further investigated. Nevertheless, such patients present a wide number of comorbidities that make therapeutic strategies most difficult. Full article
5 pages, 279 KiB  
Case Report
Neurofibromatosis Type 1 with Interstitial Pulmonary Lesions Diagnosed in an Adult Patient. A Case Study and Literature Review
by Piotr Nalepa and Monika Wolnicka
Adv. Respir. Med. 2012, 80(2), 152-157; https://doi.org/10.5603/ARM.27600 - 27 Feb 2012
Cited by 1 | Viewed by 479
Abstract
A case of a 43-year-old man with clinically diagnosed neurofibromatosis type I (NF-1, von Recklinghausen disease) was referred to a lung disease unit for investigation of worsening tolerance of physical effort and of aetiology of radiological cystic lung lesions, seen in high-resolution computed [...] Read more.
A case of a 43-year-old man with clinically diagnosed neurofibromatosis type I (NF-1, von Recklinghausen disease) was referred to a lung disease unit for investigation of worsening tolerance of physical effort and of aetiology of radiological cystic lung lesions, seen in high-resolution computed tomography (HRCT). The patient had been treated for epilepsy since childhood, and had third degree tricuspid valve incompetence, with no pulmonary hypertension detected during right heart catheterization. Interstitial pulmonary lesions were finally attributed to his primary disease, and further clinical observation is required in order to determine their dynamics. The observed deterioration in the patient’s tolerance to physical effort was connected to the accompanying respiratory tract infection with Klebsiella oxytoca and Staphylococcus aureus, in a subject with cystic lung lesions and tricuspid valve incompetence. The report describes the criteria for NF1 diagnosis and points out the controversies of coexistence of interstitial pulmonary lesions in the clinical picture of the disease. Full article
4 pages, 318 KiB  
Case Report
Neurofibromatosis Type 1 in an Adult Diagnosed by a Pulmonologist
by Agnieszka Gawlewicz-Mroczka, Lucyna Mastalerz and Ewa Niżankowska-Mogilnicka
Adv. Respir. Med. 2009, 77(5), 474-478; https://doi.org/10.5603/ARM.27779 - 12 Aug 2009
Cited by 1 | Viewed by 518
Abstract
Neurofibromatosis type 1 (NF1), referred to as von Recklinghausen’s disease, is a genetic disorder triggered by mutation of the NF1 gene, resulting in a lack of neurofibromin, which leads to abnormalities found in the peripheral nervous system and central nervous system, as well [...] Read more.
Neurofibromatosis type 1 (NF1), referred to as von Recklinghausen’s disease, is a genetic disorder triggered by mutation of the NF1 gene, resulting in a lack of neurofibromin, which leads to abnormalities found in the peripheral nervous system and central nervous system, as well as in other organs. The disease is diagnosed early, usually in childhood by pediatricians. However, in some cases, the disease is clinically silent and remains undiagnosed or is recognized in the late adulthood. We report a case study of a 32-year-old female, who was referred to the pulmunologist with a suspicion of a lung tumor. The patient was admitted to the Pulmonology Department to investigate further the subpleural mass localized in the left lung found by chance in a chest X-ray. Physical examination revealed café-au-lait spots on her skin, several subcutaneous nodules which were confirmed by a histopathology to be consistent with neurofibroma. Further diagnostic testing, such as chest CT, PET and ophthalmological examination, led to diagnosis of neurofibromatosis type 1 with pulmonary involvement. Full article
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