Giona Fiorina
Hematology, Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy.
Mediterr J Hematol Infect Dis. 2021 Nov 1;13(1):e2021069. doi: 10.4084/MJHID.2021.069. eCollection 2021.
Mastocytosis is a rare clonal disorder characterized by excessive proliferation and accumulation of mast cells (MC) in various organs and tissues. Cutaneous mastocytosis (CM), the most common form in children, is defined when MC infiltration is limited to the skin. In adults, the most common form is systemic mastocytosis (SM), characterized by MC proliferation and accumulation in organs, such as bone marrow, lymph nodes, liver, and spleen.1 Genetic aberrations, mainly the KIT D816V mutation, play a crucial role in the pathogenesis of mastocytosis, enhancing MC survival and subsequent accumulation in organs and tissues.2,3 CM includes three forms: solitary mastocytoma, maculopapular cutaneous mastocytosis (MPCM), and diffuse cutaneous mastocytosis (DCM). In most children with CM, skin lesions regress spontaneously around puberty; unfortunately, it is not always a self-limiting disease.4 Even if SM occurs occasionally, all children with mastocytosis require planned follow-up over time. Children with mastocytosis often suffer from MC mediator-related symptoms, the most common of which is itching, often triggered by rubbing the lesions. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers. Treatment with H1 and H2 histamine receptor blockers on demand and the availability of epinephrine auto-injectors for the patients to use in case of severe anaphylactic reactions are recommended.
肥大细胞增多症是一种罕见的克隆性疾病，其特征是肥大细胞（MC）在各种器官和组织中过度增殖和积聚。皮肤肥大细胞增多症（CM）是儿童中最常见的形式，当MC浸润仅限于皮肤时即可定义。在成人中，最常见的形式是系统性肥大细胞增多症（SM），其特征是MC在骨髓、淋巴结、肝脏和脾脏等器官中增殖和积聚。1基因畸变，主要是KIT D816V突变，在肥大细胞增多症的发病机制中起关键作用，增强MC的存活以及随后在器官和组织中的积聚。2,3 CM包括三种形式：孤立性肥大细胞瘤、斑丘疹性皮肤肥大细胞增多症（MPCM）和弥漫性皮肤肥大细胞增多症（DCM）。在大多数CM患儿中，皮肤病变在青春期前后会自发消退；不幸的是，它并不总是一种自限性疾病。4即使偶尔发生SM，所有肥大细胞增多症患儿都需要长期进行有计划的随访。肥大细胞增多症患儿常出现与MC介质相关的症状，其中最常见的是瘙痒，通常由摩擦病变部位引发。小儿肥大细胞增多症的管理主要基于严格避免触发因素。建议按需使用H1和H2组胺受体阻滞剂进行治疗，并为患者提供肾上腺素自动注射器，以备发生严重过敏反应时使用。
