Ichthyosiform changes in a patient with RAC1 mutation

Abstract RAS‐related C3 Botulinum Toxin Substrate 1 (RAC1) is a Rho GTPase that modulates numerous cellular functions including transcriptional regulation and actin‐based structure turnover. Reported de novo RAC1 mutations are rare but generally manifest in developmental delay and brain malformations. In Rac1 knockout mice, a hairless phenotype has been observed, but little is known of other cutaneous phenotypes of RAC1 mutations. In this report, we describe the first known case of a RAC1 mutation with ichthyosiform changes.