Ichthyosiform changes in a patient with RAC1 mutation

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
JournalPediatric dermatology
DOIs
StateAccepted/In press - 2021

Keywords

  • ichthyosis
  • RAC1

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Dermatology

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