M554 A RARE PATHOGENIC MUTATION ASSOCIATED WITH A PEDIATRIC CASE OF DIFFUSE CUTANEOUS MASTOCYTOSIS

Abstract

Diffuse cutaneous mastocytosis (DCM) is a rare disease resulting from widespread mast cell accumulation within the dermis. Disease manifestations may include erythroderma and blistering skin rashes with systemic symptoms related to mast cell mediator release. DCM has commonly been associated with sporadic gain-of-function KIT D816V mutations. Familial mastocytosis cases from germline mutations are rare and not well described.