Cutaneous Lesions in Neurofibromatosis Type I and Other Pre-cancerous Syndromes

数字皮肤镜用于准确捕捉NF1患者皮肤上真皮神经纤维瘤和咖啡-au-lait斑点和斑块的时间依赖性生长。对儿童和成人患者进行了连续的病变图像和相关的活检。2008年，该项目完成了儿科患者的加入。随着研究的进展，我们期望在儿童和成人NF1人群中获得有关病变发展和变化速度的定量信息。此外，我们已经开始研究考登综合征的皮肤表现。在西罗莫司治疗试验招募的患者中，正在重新评估与生殖系PTEN遗传状况相关的皮肤表现谱。选择皮肤病变在皮肤镜下成像，以确定他们对西罗莫司治疗的反应。到目前为止，已有16名患者参与了这项研究。

Digital dermatoscopy is used to capture accurately the time-dependent growth of dermal neurofibromas and cafe-au-lait macules and patches on the skin of NF1 patients. Sequential images of lesions on patients and associated biopsies have been performed on pediatric and adult patients. In 2008, the addition of pediatric patients to this project was accomplished. As the study progesses, we anticipate obtaining quantitative information about the rate of lesion development and change in both the pediatric and adult NF1 population. Additionally, we have begun a study of the cutaneous manifestations of Cowden syndrome. The spectrum of cutaneous findings associated with this genetic condition of germline PTEN is being re-evaluated in patients recruited for a trial of sirolimus therapy. Select cutaneous lesions are imaged dermatoscopically to determine their responsiveness to sirolimus therapy. To date 16 patients have entered this study.