My research is mainly focused on genetic skin disorders (genodermatoses). I was involved in the discovery and molecular and clinical characterization of a novel autosomal recessive multisystemic disorder, the H syndrome, a form of inhertited histiocytosis. I took part in most of the publications concerning this disorder, in both the genetic and clinical aspects. In addition, I participated in various other genetic projects including the identification of a novel locus for hereditary telangiectasia, identification of the genes responsible for woolly hair and kertoderma and generalized verrucosis. I served as the editor of a chapter on genetic skin disorders in one of the leading textbooks of Dermatology (Jorizzo JL, Scahffer JV, Bolognia JL, editors. Dermatology, 3rd edition, 2012. Elsevier Saunders. Pp 799-823).
Currently, I am involved in several ongoing projects in genodermatoses, as well as in other fields of pediatric dermatology (pediatric chronic cutaneous graft versus host disease, cutaneous adverse effects of treosulfan based conditioning in pediatric bone marrow transplantation, Coxackievirus A6 atypical hand foot and mouth disease).