Molecular Background, Clinical Features and Management of Pediatric Mastocytosis: Status 2021

Abstract

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 KIT 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.

Pediatric Mastocytosis: An Update

“…The use of systemic corticosteroids, limited by numerous side effects, is indicated as a short course in children with extremely severe mediator-related symptoms and extensive and persistent blistering. 18,41,44,45 Treatment of anaphylaxis. The risk of anaphylaxis in children with mastocytosis is 5-10%.…”

“…As a proportion of children do not show any c-KIT mutations, it is most likely that other gene mutations could be responsible for the pathogenesis of the disease. 18,20 The various c-KIT gene status, wild type, mutations in exon 17, and other mutations found in children do not correlate with clinical phenotypes, MPCM, DCM, and mastocytoma and do not predict the outcome of the disease. 18,[21][22][23] The presence of c-KIT mutations of the MCs in the skin confirms the diagnosis of CM, but this is not a diagnostic criterion for SM nor a predictor of the evolution of the disease.…”

“…18,20 The various c-KIT gene status, wild type, mutations in exon 17, and other mutations found in children do not correlate with clinical phenotypes, MPCM, DCM, and mastocytoma and do not predict the outcome of the disease. 18,[21][22][23] The presence of c-KIT mutations of the MCs in the skin confirms the diagnosis of CM, but this is not a diagnostic criterion for SM nor a predictor of the evolution of the disease. 2,24,25 On the other hand, the presence of KIT 816V mutation in the peripheral blood (PB) of children with CM should suggest performing a bone marrow biopsy, which is useful for identifying children at risk of developing SM.…”

“…2,24,25 On the other hand, the presence of KIT 816V mutation in the peripheral blood (PB) of children with CM should suggest performing a bone marrow biopsy, which is useful for identifying children at risk of developing SM. 18,26,27 Serum tryptase levels (normal values <11.5 ng/ml), which include values of protriptase, a molecule constitutively secreted by unstimulated MCs, and mature tryptase, stored as secretory granules in cells, are considered markers of MC activity. 28 In the pediatric age, increased serum tryptase levels are more likely to indicate the presence of active MC in the skin.…”

Кожна Мастоцитоза В Детска Възраст: Клиничен Случай И Литературен Обзор

“…Редки болести и лекарства сираци 2021;12(2):8-14 и инфекциозни заболявания с фебрилитет. Родителите трябва да знаят лекарствата, които могат да предизвикат активиране на мастоцитите: морфин, кодеин, ванкомицин, аспирин, кеторолак и мускулни релаксанти (Таблица2) [16][17]. При UP се препоръчват перорални H1 антихистамини (неседативни), защото повлияват сърбежа и еритема.…”