Ichthyosiform changes in a patient with RAC1 mutation.

Autor:	Haugh IM; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Pineider JL; University of Texas Southwestern Medical School, Dallas, Texas, USA., Agim NG; Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Jazyk:	angličtina
Zdroj:	Pediatric dermatology [Pediatr Dermatol] 2021 Nov; Vol. 38 (6), pp. 1590-1591. Date of Electronic Publication: 2021 Nov 01.
DOI:	10.1111/pde.14844
Abstrakt:	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. (© 2021 Wiley Periodicals LLC.)
Databáze:	MEDLINE
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