Preimplantation Genetic Screening in Darier-White Disease: A Case Report

Darier-White disease is a rare genodermatosis with many degrees of severity and clinical manifestations that extend beyond the limits of the skin. It is a genetic disorder with an autosomal dominant inheritance pattern that can be treated, but not cured. Our work aims to report unpublished aspects on genetics and clinical presentationof Darier-White disease in Brazil, presenting a new genetic variant found in a female patient that has not been described so far. We also demonstrated the efficacy of the preimplantation genetic diagnosis along with techniques in assisted reproduction to withhold the occurrence of the Darier-White disease in future generations.

Keywords: Darier disease, Darier-White, genodermatosis, new mutation, assisted reproduction, preimplantation genetic diagnosis.