- Tytuł:
- Large plexiform neurofibroma on right thigh of a farmer in the course of Recklinghausen disease - Case report
- Autorzy:
-
Sompor, J.
Prystupa, A.
Wawrzycki, B.
Wojciechowska, K.
Kancik, E.
Kurys-Denis, E.
Ochal, A.
Prystupa, T.
Jojczuk, M.
Kulesza, T.
Antosz, H. - Powiązania:
- https://bibliotekanauki.pl/articles/3231.pdf
- Data publikacji:
- 2014
- Wydawca:
- Instytut Medycyny Wsi
- Tematy:
-
right thigh
farmer
human disease
Recklinghausen's disease
tumour
neurofibromatosis - Opis:
- 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.
- Źródło:
-
Journal of Pre-Clinical and Clinical Research; 2014, 08, 2
1898-2395 - Pojawia się w:
- Journal of Pre-Clinical and Clinical Research
- Dostawca treści:
- Biblioteka Nauki
Artykuł