Riccardi Vincent M
The Neurofibromatosis Institute, La Crescenta, California.
Am J Med Genet A. 2015 Jul;167(7):1570-7. doi: 10.1002/ajmg.a.37045. Epub 2015 May 14.
A patient with NF1 was treated with oral ketotifen for 30 years since infancy. Review of the patient's course and treatment details establishes a basis for reconsideration of several fundamental precepts about NF1 pathogenesis. The data suggest a distinctive benefit to treating an NF1 patient with an inhibitor of mast cell degranulation before cutaneous neurofibromas are clinically apparent: the neurofibromas appear to be arrested at a very early stage of development. The patient's skin was especially remarkable for both the paucity of cutaneous neurofibromas and the distinctive monotonous uniformity of those present, which were small and flat or barely sessile. While the data do not, of themselves, prove that ketotifen treatment commencing in childhood preempts neurofibroma maturation, in the context of earlier publications, they certainly warrant further investigation.
一名患有神经纤维瘤病1型(NF1)的患者自婴儿期起口服酮替芬治疗30年。回顾该患者的病程及治疗细节,为重新思考关于NF1发病机制的几个基本准则奠定了基础。数据表明,在皮肤神经纤维瘤出现临床症状之前,用肥大细胞脱颗粒抑制剂治疗NF1患者有显著益处:神经纤维瘤似乎在发育的非常早期阶段就停止了生长。该患者的皮肤尤其显著,一方面皮肤神经纤维瘤数量稀少,另一方面现存的神经纤维瘤具有独特的单一均匀性,它们体积小且扁平,或几乎无蒂。虽然这些数据本身并不能证明儿童期开始的酮替芬治疗能阻止神经纤维瘤成熟,但结合早期的出版物来看,它们确实值得进一步研究。