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Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11
Pediatric Dermatology ( IF 1.2 ) Pub Date : 2022-08-10 , DOI: 10.1111/pde.15103
Olivia M T Davies 1 , Ashley T Ng 2 , Jennifer Tran 2 , Shoshana Blumenthal 3 , Lisa M Arkin 2 , Amy J Nopper 4 , Catherine E Cottrell 5, 6 , Maria Garzon 7 , Dawn H Siegel 8 , Ilona J Frieden 9 , Beth A Drolet 2
Affiliation  

Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or with other associations, including glaucoma and leptomeningeal angiomatosis (i.e., Sturge–Weber syndrome) or pigmentary birthmarks (i.e., phakomatosis pigmentovascularis). The use of targeted genetic sequencing has revealed that postzygotic somatic variations in GNAQ and GNA11 at codon 183 are associated with CMs. We report five patients with early-onset hypertension and discuss possible pathogenesis of hypertension.

中文翻译:

早发性高血压与广泛的皮肤毛细血管畸形相关,在 GNAQ 和 GNA11 中含有合子后变异

皮肤毛细血管畸形 (CM) 描述了一组具有异质性表现的血管胎记。CM 可能表现为孤立的发现或与其他关联,包括青光眼和软脑膜血管瘤病(即 Sturge-Weber 综合征)或色素性胎记(即色素性血管瘤)。靶向基因测序的使用表明,密码子 183 处GNAQGNA11的合子后体细胞变异与 CM 相关。我们报告了 5 名早发性高血压患者,并讨论了高血压的可能发病机制。
更新日期:2022-08-10
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