Early‐onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11

• DOI: 10.1111/pde.15103
• Publication Date: 2022-08-10T09:13:06Z
• Authors: Olivia M. T. Davies; Ashley T. Ng; Jennifer Tran; Shoshana Blumenthal; Lisa M. Arkin; Amy J. Nopper; Catherine E. Cott...; Maria Garzon; Dawn H. Siegel; Ilona J. Frieden; Beth A. Drolet
• Keywords: GNAQ; Sturge–Weber syndrome

Abstract Background and Objectives Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or other associations, including glaucoma leptomeningeal angiomatosis (i.e., Sturge–Weber syndrome) pigmentary phakomatosis pigmentovascularis). The use targeted genetic sequencing has revealed that postzygotic somatic variations in GNAQ GNA11 at codon 183 are associated CMs. We report five patients early‐onset hypertension discuss possible pathogenesis hypertension. Methods Twenty‐nine CMs, confirmed GNAQ/11 variants, documented past medical history were identified from multi‐institutional anomalies study. Early‐onset was defined before the age 55 years. Clinical data reviewed for evidence hypertension, such documentation diagnosis elevated blood pressure measurements. Results Five 29 having variants had Three individuals harbored p.R183Q variant, two p.R183C variant. All extensive cutaneous involving trunk covering 9%–56% their body surface area. median 15 years (range 11–24 years), three renal abnormalities on imaging. Conclusions is harboring . Here, we expand phenotype hypothesize potential mechanisms driving recommend serial measurements extremities to screen