Cutaneous Mastocytosis in Childhood: An Update from the Literature

Mastocytosis is an uncommon disease characterized by clonal infiltration of mast cell (MC) in different tissues. Cutaneous mastocytosis (CM) is the most frequent type observed during childhood and is characterized by MC accumulation limited to the skin. In adults, systemic mastocytosis is the most common type, characterized by MC proliferation in various organs such as the bone marrow, lymph nodes, liver, and spleen. Genetic alterations, primarily the KIT D816V mutation, play a pivotal role in the pathogenesis of CM, stimulating MC growth and mobilization, leading to tissue and organ infiltration. CM can be classified into three types: solitary mastocytoma, maculopapular CM, and diffuse CM. While cutaneous lesions in most CM cases naturally regress around puberty, the disorder is not always self-limiting. Even though systemic mastocytosis cases are rare, follow-up is necessary for all children diagnosed with CM. Patients with mastocytosis often experience symptoms associated with MC mediators, with itching being the most common, typically triggered by stimuli applied to the lesions. The treatment approach for CM primarily focuses on avoiding triggers. The use of H1 and H2 antihistamines during symptom flare-ups and the availability of adrenaline autoinjectors for severe systemic reactions constitute the mainstay of CM management.