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
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