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Journal Compilation © 2020 Acta Dermato-Venereologica. doi: 10.2340/00015555-3504 Mastocytosis is a heterogeneous disease that results from a clonal, neoplastic proliferation of morphologically and immunophenotypically abnormal mast cells (MCs), which accumulate in one or more organ systems (1, 2). Paediatric mastocytosis is considered a benign, transient skin-limited disease, defined as cutaneous mastocytosis (CM) (3, 4). However, analysis of the literature data on childhood-onset mastocytosis shows that systemic mastocytosis (SM) is a rare finding in children (5–9). At present, the true incidence of SM in children remains unknown. According to the European Competence Network on Mastocytosis (ECNM) diagnostic recommendations, in children with cutaneous manifestation of mastocytosis, a bone marrow (BM) investigation is not necessary unless serum tryptase levels are very high (> 100 ng/ml) or the blood count and/or other clinical findings and symptoms suggest the presence of a haematological neoplasm (10). Currently, the use of highly sensitive PCR techniques to identify the KIT D816V mutation in peripheral blood (PB) has been incorporated into the algorithm for diagnosis of SM, both in adults and children (6, 11–13). The current study aimed to assess whether detection of the KIT D816V mutation in PB is a valuable tool for diagnosis of SM in children with extensive skin lesions in daily clinical practice.

New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood