1型神经纤维瘤病合并肾上腺嗜铬细胞瘤和空肠神经纤维瘤：1例报告
Adrenal pheochromocytoma and jejunal neurofibroma in type 1 neurofibromatosis: report of a case.
作者信息
De Toma G, Letizia C, Cavallaro G, Polistena A, Cotesta D, Petramala L, Porciello R, Giustini S, Calvieri S
机构信息
University of Rome La Sapienza, Policlinico Umberto I, Department of Surgery P. Valdoni, Italy.
出版信息
G Chir. 2007 May;28(5):199-202.
INTRODUCTION
Neurofibromatosis type 1 (NF1), known as von Recklinghausen's disease, is characterized by presence of café au lait spots, and neurofibromas in the skin or along the course of peripheral nerves. Diagnosis, despite extreme clinical variability, is defined by established diagnostic criteria. Clinical status is frequently complicated by systemic disorders and neoplasias.
CASE REPORT
A case of a patient affected by NF1, with hypertension due to adrenal pheochromocytoma and with jejunal neurofibroma, is reported.
DISCUSSION AND CONCLUSIONS
Variability in clinical presentation of NF1 with possible manifestation of severe systemic benign and malignant diseases requires strict follow-up and specific screening of extra-cutaneous lesions.
引言
1型神经纤维瘤病（NF1），即冯雷克林霍增氏病，其特征为皮肤出现咖啡牛奶斑以及皮肤或沿周围神经行程出现神经纤维瘤。尽管临床症状差异极大，但诊断仍依据既定的诊断标准。临床状况常因全身性疾病和肿瘤而复杂化。
病例报告
报告了1例受NF1影响的患者，该患者因肾上腺嗜铬细胞瘤患有高血压且患有空肠神经纤维瘤。
讨论与结论
NF1临床表现的多样性以及可能出现的严重全身性良性和恶性疾病，需要进行严格随访和对皮肤外病变进行特定筛查。
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