Successful treatment of progressive cutaneous mastocytosis with imatinib in a 2-year-old boy carrying a somatic KIT mutation

摘要: Cutaneous mastocytosis (CM) in children is a usually benign skin disorder caused by mast cell proliferation. Progressive disease leading to systemic involvement and fatal outcomes has been described. C-kit receptor mutations have identified as causative for CM, some of which potentially respond imatinib treatment described patients with mastocytosis. We report successful therapy progressive CM 23-month-old boy. KIT gene analysis revealed not only somatic deletion codon 419 exon 8 (c.1255_1257delGAC) responds therapy, but also novel germ line p. Ser840Asn substitution encoded 18 the c-kit kinase domain. Family history suggests this exchange does affect function or cause disease. Imatinib was well tolerated, stopped symptoms progression, appeared shorten course could possibly represent therapeutic option CM.