A Postzygotic TRPM4 Variant in a Patient with Inflammatory Linear Verrucous Epidermal Nevus
DOI:
https://doi.org/10.2340/actadv.v106.adv-2026-0503Keywords:
TRPM4, ILVEN, Genetics, EpidermisDownloads
References
Liu Z, Zhao Z, Lv K, Wang H, Yang F, Lin Z. Postzygotic gain-of-function variant in TRPM4 and inflammatory linear verrucous epidermal nevus. JAMA Dermatol 2025. DOI: https://doi.org/10.1001/jamadermatol.2025.2205
Umegaki-Arao N, Sasaki T, Fujita H, Aoki S, Kameyama K, Amagai M, et al. Inflammatory linear verrucous epidermal nevus with a postzygotic GJA1 mutation is a mosaic erythrokeratodermia variabilis et progressiva. J Invest Dermatol 2017; 137: 967–970. DOI: https://doi.org/10.1016/j.jid.2016.11.016
Riachi M, Polubothu S, Stadnik P, Hughes C, Martin SB, Charman CR, et al. Molecular genetic dissection of inflammatory linear verrucous epidermal naevus leads to successful targeted therapy. J Invest Dermatol 2021; 141: 2979–2983. DOI: https://doi.org/10.1016/j.jid.2021.02.765
Wang H, Xu Z, Lee BH, Vu S, Hu L, Lee M, et al. Gain-of-function mutations in TRPM4 activation gate cause progressive symmetric erythrokeratodermia. J Invest Dermatol 2019; 139: 1089–1097. DOI: https://doi.org/10.1016/j.jid.2018.10.044
Kruse M, Schulze-Bahr E, Corfield V, Beckmann A, Stallmeyer B, Kurtbay G, et al. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I. J Clin Invest 2009; 119: 2737–2744. DOI: https://doi.org/10.1172/JCI38292
Autzen HE, Myasnikov AG, Campbell MG, Asarnow D, Julius D, Cheng Y. Structure of the human TRPM4 ion channel in a lipid nanodisc. Science 2018; 359: 228–232. DOI: https://doi.org/10.1126/science.aar4510
Guo J, She J, Zeng W, Chen Q, Bai XC, Jiang Y. Structures of the calcium-activated, non-selective cation channel TRPM4. Nature 2017; 552: 205–209. DOI: https://doi.org/10.1038/nature24997
Jiang X, Wang Z, Lin Z, Xu Z, Wang H. Incompletely penetrant TRPM4-associated progressive symmetric erythrokeratodermia responses to methotrexate. J Dermatol 2022; 49: e422–e423. DOI: https://doi.org/10.1111/1346-8138.16503
Zhang A, Duchatelet S, Lakdawala N, Tower RL, Diamond C, Marathe K, et al. Targeted inhibition of the epidermal growth factor receptor and mammalian target of rapamycin signaling pathways in olmsted syndrome. JAMA Dermatol 2020; 156: 196–200. DOI: https://doi.org/10.1001/jamadermatol.2019.4141
Published
How to Cite
License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.
Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.
