Hartmann K, Metcalfe D D
Department of Dermatology, University of Cologne, Germany.
Hematol Oncol Clin North Am. 2000 Jun;14(3):625-40. doi: 10.1016/s0889-8588(05)70299-9.
Pediatric mastocytosis presents with heterogeneous cutaneous lesions and symptoms that are caused by increased numbers of tissue mast cells. In contrast with adult patients with mastocytosis, the course of pediatric patients is usually transient. Therefore, it has long been speculated that pediatric and adult mastocytosis may be based on different pathogenetic mechanisms. Indeed, new genetic findings now indicate differences in the pathogenesis. Adult patients usually express activating mutations of the growth factor receptor c-kit. Most children lack these mutations but sometimes carry other inactivating mutations of c-kit. Only children with progressive mastocytosis seem to express the activating mutations seen in adults. Causal treatment is not yet available, but H1 and H2 antihistamines may provide relief of symptoms. It is important to counsel patients and their parents carefully to avoid triggers that induce systemic mast cell degranulation.
儿童肥大细胞增多症表现为多种皮肤病变和症状,这些是由组织肥大细胞数量增加引起的。与成人肥大细胞增多症患者不同,儿童患者的病程通常是短暂的。因此,长期以来人们一直推测儿童和成人肥大细胞增多症可能基于不同的发病机制。事实上,新的基因研究结果现在表明了发病机制的差异。成年患者通常表达生长因子受体c-kit的激活突变。大多数儿童没有这些突变,但有时携带c-kit的其他失活突变。只有进行性肥大细胞增多症的儿童似乎表达在成人中所见的激活突变。目前尚无因果治疗方法,但H1和H2抗组胺药可能会缓解症状。重要的是要仔细向患者及其父母提供咨询,以避免诱发全身肥大细胞脱颗粒的触发因素。