کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4024431 1262313 2010 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Xeroderma pigmentosum compliqué d'une tumeur intracérébrale : à propos d'un cas
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی چشم پزشکی
پیش نمایش صفحه اول مقاله
Xeroderma pigmentosum compliqué d'une tumeur intracérébrale : à propos d'un cas
چکیده انگلیسی
Patients with the genetic disease xeroderma pigmentosum (XP) lack the ability to carry out a specific type of DNA repair process called nucleotide excision repair (NER). The NER pathway plays a critical role in the repair of DNA damage resulting from ultraviolet (UV) radiation. We report a case of a patient presenting a cutaneous form of XP. She presented acute paralysis of the third cranial nerve with cutaneous anesthesia. Nuclear magnetic resonance imaging revealed an intracranial tumor. She underwent surgery with incomplete tumor resection; anatomopathological study showed a schwannoma. Complementary radiosurgery was performed. The association between XP and neurological cancer is rare but not impossible. A priori, it would be assumed that the major medical outcome of hereditary deficiencies in DNA repair processes would be an increased risk of cancer. Indeed, there is an increased risk of cancer in several known DNA repair deficiencies including XP.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal Français d'Ophtalmologie - Volume 33, Issue 7, September 2010, Pages 495.e1-495.e4
نویسندگان
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