CONGENITAL LYMPHATIC DYSPLASIA IN KABUKI SYNDROME: FIRST REPORT OF AN UNUSUAL ASSOCIATION

Abstract

Kabuki syndrome was first described inJapan in 1981 as a rare disorder of unknowncause. Its main features include characteristicfacies, postnatal growth retardation, andmental delay. To date, there is no molecularmarker for Kabuki syndrome, which isconsidered genetically heterogeneous and stillis a clinically-based diagnosis. Here wedescribe the first case of a patient affected byKabuki syndrome associated with lymphaticdysplasia. We suggest accurate evaluation ofall Kabuki patients as early as possible inorder to diagnose lymphedema or otherclinical manifestations of lymphatic systeminvolvement. Early identification of lymphaticsystem maldevelopment provides the bestchance for reducing the risk of developingprogressive lymphedema with associated tissuechanges (fibrosis, sclerosis, and fat deposition).