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.
• Języki publikacji: EN

Abstrakty

EN

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.

Słowa kluczowe

EN

right thigh; farmer; human disease; Recklinghausen's disease; tumour; neurofibromatosis

• Wydawca: -
• Czasopismo: Journal of Pre-Clinical and Clinical Research
• Rocznik: 2014
• Tom: 08
• Numer: 2
• Opis fizyczny: p.109-112,fig.,ref.

Twórcy

autor

Sompor J.

• Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland

autor

Prystupa A.

• Department of Internal Medicine, Medical University of Lublin, Lublin, Poland

autor

Wawrzycki B.

• Department of Dermatology, Venerology and Paediatric Dermatology, Medical University of Lublin, Lublin, Poland

autor

Wojciechowska K.

• Department of Clinical Genetics, Medical University of Lublin, Lublin, Poland

autor

Kancik E.

• Department of Internal Medicine, Medical University of Lublin, Lublin, Poland

autor

Kurys-Denis E.

• II Department of Medical Radiology, Medical University of Lublin, Lublin, Poland

autor

Ochal A.

• Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland

autor

Prystupa T.

• Students Research Association, Medical University of Lublin, Lublin, Poland

autor

Jojczuk M.

• Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland

autor

Kulesza T.

• Department of Trauma Surgery and Emergency Medicine, Medical University of Lublin, Staszica 16, 20-081 Lublin, Poland

autor

Antosz H.

• Department of Clinical Genetics, Medical University of Lublin, Lublin, Poland

Bibliografia

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Identyfikatory

DOI

10.5604/18982395.1135661