Department of Dermatology, Venereology and Allergology, Medical University of Gdańsk, 80-211 Gdańsk, Poland.
Division of Allergy, Department of Dermatology, University Hospital Basel and University of Basel, 4031 Basel, Switzerland.
Int J Mol Sci. 2021 Mar 4;22(5):2586. doi: 10.3390/ijms22052586.
Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator-related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto-injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow-up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.
儿童肥大细胞增多症是一种异质性疾病，其特征是肥大细胞在皮肤中积累，在其他器官中较少见。大多数患者检测到原癌基因的体细胞或种系突变。在儿童中，皮肤肥大细胞增多症是最常见的疾病形式。在大多数情况下，皮肤病变会在青春期自发消退。然而，在少数患者中，肥大细胞增多症不是一种自限性疾病，而是持续到成年期，并可能出现系统性受累的迹象，特别是当皮肤病变为小尺寸和单形性时。患有肥大细胞增多症的儿童常患有肥大细胞介质相关症状。严重的过敏反应也可能发生，主要发生在广泛皮肤病变和水疱的患者中。在这些病例中的相当一部分中，过敏反应的触发因素仍然未知。儿童肥大细胞增多症的管理主要基于严格避免诱因、使用 H1 和 H2 组胺受体阻滞剂治疗以及为患者及其家属配备肾上腺素自动注射器，以用于严重过敏反应。偶尔会发生高级系统性肥大细胞增多症。所有患有肥大细胞增多症的儿童都需要进行随访检查。当怀疑发生高级系统性肥大细胞增多症且对治疗有影响或当皮肤疾病持续到成年期时，进行骨髓检查。
