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

数字皮肤镜被用来准确地捕捉NF1患者皮肤上真皮神经纤维瘤和咖啡馆斑块的随时间增长的情况。对儿童和成人患者的病变和相关的活检进行了顺序成像。2008年，这一项目增加了儿科病人。随着研究的进展，我们期望获得有关儿童和成人NF1人群中病变发展和变化的速度的定量信息。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中招募的患者中，正在重新评估与这种生殖系PTEN遗传状态相关的皮肤发现的谱。选定的皮肤病变在皮肤镜下成像，以确定它们对西罗莫司治疗的反应。到目前为止，已有5名患者进入这项研究。

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 5 patients have entered this study.