Large plexiform neurofibroma on right thigh of a farmer in the course of Recklinghausen disease – Case report
Journal Title: Journal of Pre-Clinical and Clinical Research - Year 2014, Vol 8, Issue 2
Abstract
A 59-year-old farmer was admitted to the Department of Trauma Surgery because of pain associated with the presence of a tumour on the side of the right thigh. The patient stated that his biggest problem was great difficulty in moving and handling agricultural machinery due to the aforementioned lesion. On physical examination, the patient presented with numerous cutaneous and subcutaneous neurofibromas, as well as one large plexiform neurofibroma. Diagnosis of eurofibromatosis type 1 was established, based on National Institutes of Health diagnostic criteria. Moreover, molecular genetic testing found known pathogenic mutation p.Arg1769* in one of the alleles of [i]NF1[/i] gene (heterozygote), typical for Recklinghausen disease. The big plexiform neurofibroma in the patient was not operated on because of lung cancer.
Authors and Affiliations
Jacek Sompor, Andrzej Prystupa, Bartłomiej Wawrzycki, Katarzyna Wojciechowska, Emila Kancik, Ewa Kurys-Denis, Andrzej Ochal, Tomasz Prystupa, Mariusz Jojczuk, Tomasz Kulesza, Halina Antosz
Keywords
Related Articles
- EP ID EP58531
- DOI -
- Views 98
- Downloads 0
Lethal acute liver failure in a 60 y/o female patient with AILD III (Ann Arbor) T-cell lymphoma in remission state – Case report
Acute liver failure (ALF) is a rare condition in which liver function deteriorates suddenly, leading to encelopathy and coagulopathy in patients previously unaffected with hepatic cirrhosis. The case is presented of a 60...
Contemporary nursing: objectives and tasks
The objectives, tasks and possibilities of contemporary practically- theoretically oriented nursing is presented, together with consideration of the historical and prognostic context of nursing. The methods of content re...
DNA microarrays – future in oncology research and therapy
DNA microarrays are a modern and powerful tool for investigating biological processes through the widespread analysis of genes from a particular cell, tissue, or organism. The completion of the human genome project and...
Pulmonary lymphangitic carcinomatosis in the course of gastric cancer – Case report
Pulmonary lymphangitic carcinomatosis is a special type of diffuse metastasis of carcinoma in the lymphatic vessels of the lungs. Lymphangitic carcinomatosis is commonly observed in malignancies of the breast, lung, panc...
Computed tomography imaging of orbits in thyroid orbitopathy
The aim of this study was to present the authors’ experience with identification and classification of thyroid ophtalmopathy activity. A total of 46 orbits from 23 patients with thyroid ophthalmopathy symptoms were eval...