Department of Dermatology, University Hospital of Geneva, 4 Rue Gabrielle Perret-Gentil, Geneva, 1205, Switzerland.
Br J Dermatol. 2015 Jan;172(1):253-6. doi: 10.1111/bjd.13170. Epub 2014 Nov 12.
von Recklinghausen disease/neurofibromatosis (NF) is caused by an autosomal dominant mutation in NF1, resulting in a deficiency of neurofibromin 1, a protein with a tumour suppressor function in the Ras-extracellular regulated kinase pathway. The disease comprises a variety of clinical manifestations, including vascular abnormalities. Large vessel abnormalities are well known, while small vessels of the skin are very rarely involved. The latter can cause livedo, necrosis and painful ulcers. For such ulcers, all invasive therapies (e.g. surgery and radiotherapy) are harmful and should be avoided. Herein, we describe a patient with NF and cutaneous vasculopathy treated with imatinib, a tyrosine kinase inhibitor.
冯·雷克林豪森氏病/神经纤维瘤病(NF)是由 NF1 中的常染色体显性突变引起的,导致神经纤维瘤 1 蛋白缺乏,该蛋白在 Ras-细胞外调节激酶途径中具有肿瘤抑制功能。该疾病包括多种临床表现,包括血管异常。大血管异常是众所周知的,而皮肤的小血管则很少受到影响。后者可导致皮肤淤斑、坏死和疼痛性溃疡。对于此类溃疡,所有侵入性治疗(例如手术和放疗)均有害,应予以避免。在此,我们描述了一例 NF 伴皮肤血管病患者,使用酪氨酸激酶抑制剂伊马替尼进行治疗。