The role of heredity in cutaneous mastocytosis and C-KIT gene mutation

Abstract

Introduction. Mastocytosis is a rare disease associated with the proliferation of clonal mast cells in the skin and other organs and systems. In the last decade, studies have appeared on the role of genetic factors in the development of the disease. According to their results, the mode of inheritance of mastocytosis was determined to be autosomal dominant with incomplete penetrance of the gene. Aim. To analyze the frequency of familial cases of mastocytosis and describe a familial case of monomorphic type maculopapular cutaneous mastocytosis (monoPPCM). Results. A family history was present in 6.7% of 341 children with mastocytosis. The article presents a description of the clinical, laboratory and instrumental features of monoPPCM in cousins (paternal kinship). The course of mastocytosis in a patient with the KIT D816V mutation in the peripheral blood was more severe than in her cousin without the mutation. Conclusion. The family case of monoMPCM presented in the article demonstrated the need for careful examination and dynamic monitoring of children with this pathology. The diagnosis of monomorphic (“adult”) type of MPCM is associated with a long course and the risk of developing systemic mastocytosis. Determining KIT mutations is necessary not only for prognosis, but also for developing a strategy for monitoring and treating the patient.