CASE REPORT
Large plexiform neurofibroma on right thigh of a farmer in the course of Recklinghausen disease – Case report
1
Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Poland
2
Department of Internal Medicine, Medical University of Lublin, Poland
3
Department of Dermatology, Venerology and Paediatric Dermatology, Medical University of Lublin, Poland
4
Department of Clinical Genetics, Medical University of Lublin, Poland
5
II Department of Medical Radiology, Medical University of Lublin, Poland
6
Students Research Association, Medical University of Lublin, Poland
Corresponding author
Andrzej Prystupa
Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland
Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland
J Pre Clin Clin Res. 2014;8(2):109–112
KEYWORDS
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 Neurofibromatosis 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 NF1 gene (heterozygote), typical for Recklinghausen disease. The big plexiform neurofibroma in the patient was not operated on because of lung cancer.
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