Hartmann K, Bruns S B, Henz B M
Department of Dermatology, University of Cologne, Germany.
J Investig Dermatol Symp Proc. 2001 Nov;6(2):143-7. doi: 10.1046/j.0022-202x.2001.00029.x.
Mastcytosis is a rare disease characterized by an abnormal increase of mast cells in tissues. The skin is the organ most frequently involved, but mast cells also accumulate in the bone marrow, gastrointestinal tract, lymph nodes, spleen, and liver. Recent studies suggest that activating mutations of c-kit, a protooncogene encoding for the receptor (kit) of stem cell factor, are a possible cause of some forms of mastocytosis. In addition, an increased rate of chromosomal aberrations has been found. Despite significant advances in research on mastocytosis, curative treatment is not yet available. Current management is based on avoidance of mediator-releasing triggers and symptomatic treatment.
肥大细胞增多症是一种罕见疾病,其特征是组织中肥大细胞异常增多。皮肤是最常受累的器官,但肥大细胞也会在骨髓、胃肠道、淋巴结、脾脏和肝脏中积聚。最近的研究表明,c-kit(一种编码干细胞因子受体(kit)的原癌基因)的激活突变可能是某些形式肥大细胞增多症的病因。此外,还发现染色体畸变率增加。尽管在肥大细胞增多症的研究方面取得了重大进展,但尚未有治愈性治疗方法。目前的治疗方法是避免释放介质的触发因素并进行对症治疗。