Subject(s)
Hair Diseases , Polyomavirus Infections , Polyomavirus , Skin Abnormalities , Female , Humans , Extremities , Immunocompromised HostABSTRACT
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.
Subject(s)
Ichthyosis/genetics , rac1 GTP-Binding Protein , Animals , Humans , Mice , Mutation , rac1 GTP-Binding Protein/geneticsABSTRACT
Kawasaki disease is a vasculitis of medium-sized vessels and the most common cause of acquired heart defects in the United States. Although its etiology is unclear, an infectious trigger has been theorized, which has been highlighted by the recent pandemic. We present a case of a 17-month-old-girl with concurrent Kawasaki disease and non-SARS-CoV2 coronavirus infection and a sequela of onychomadesis.
