《化“ beast”为“ beauty”——历经十五年铸就——先天性神经纤维瘤病病例报告》
"Transforming the Beast to A Beauty"- Fifteen Years into the Making - Case Report of Congenital Neurofibromatosis.
作者信息
Tudzarova-Gjorgova Smilja, Gjorgova-Gjeorgjievski Sandra, Ilievski Boro
机构信息
University Clinic of Plastic and Reconstructive Surgery, Medical Faculty, Ss. Cyril and Methodius University of Skopje, Skopje, Republic of Macedonia.
Beaumont Hospital, Oakland University School of Medicine, Department of Anatomic and Clinical Pathology, Royal Oak, MI, USA.
出版信息
Open Access Maced J Med Sci. 2019 Jan 31;7(3):388-391. doi: 10.3889/oamjms.2019.126. eCollection 2019 Feb 15.
BACKGROUND
In 1882, the German pathologist Friedrich Daniel von Recklinghausen described a series of patients with a combination of cutaneous lesions and tumours of the peripheral and central nervous system. Succeeding this paper, all of the patients with similar symptoms were given the diagnosis "von Recklinghausen disease". In the 20th century, a distinction was made between Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) with the help of molecular testing.
CASE REPORT
We are presenting the results from multiple surgical esthetic and reconstructive surgical procedures performed on a female patient with severe congenital neurofibromatosis during 15 years (2000-2015). The external appearance of our patient was not reflected in the general public's beauty standards. Convinced that she was unusual and unaccepted by the society, she gathered all of the strength and became our patient at 15 years of age.
CONCLUSION
Transforming the patient's life in the next fifteen years improved her overall health and her life quality.
背景
1882年，德国病理学家弗里德里希·丹尼尔·冯·雷克林豪森描述了一系列患有皮肤病变以及周围和中枢神经系统肿瘤的患者。在这篇论文发表之后，所有有类似症状的患者都被诊断为“冯·雷克林豪森病”。在20世纪，借助分子检测对1型神经纤维瘤病（NF1）和2型神经纤维瘤病（NF2）进行了区分。
病例报告
我们展示了在15年期间（2000年至2015年）对一名患有严重先天性神经纤维瘤病的女性患者进行的多次外科美容和重建手术的结果。我们患者的外貌不符合大众的审美标准。她深信自己与众不同且不被社会所接受，于是鼓起所有的勇气，在15岁时成为了我们的患者。
结论
在接下来的十五年里改变患者的生活改善了她的整体健康状况和生活质量。
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