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ORIGINAL RESEARCH

Two Novel and Three Recurrent Mutations in the Mevalonate Pathway Genes in Chinese Patients with Porokeratosis

ORCID Icon, ORCID Icon, , , ORCID Icon, , , & show all
Pages 191-197 | Received 06 Nov 2023, Accepted 18 Jan 2024, Published online: 24 Jan 2024

References

  • Peng JM, Xiao XM, Chen JW, et al. Novel mutation in MVK gene for co-occurrence of disseminated superficial actinic porokeratosis with porokeratosis ptychotropica. J Dermatol. 2021;48(3):e137–e139. doi:10.1111/1346-8138.15748
  • Xu HJ, Wen GD. Mixed porokeratosis with a novel mevalonate kinase gene mutation: a case report. World J Clin Cases. 2022;10(14):4528–4534. doi:10.12998/wjcc.v10.i14.4528
  • Zhang SQ, Jiang T, Li M, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet. 2012;44(10):1156–1160. doi:10.1038/ng.2409
  • Inci R, Zagoras T, Kantere D, et al. Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma. J Eur Acad Dermatol Venereol. 2023;37(2):420–427. doi:10.1111/jdv.18587
  • Zhang ZH, Li CH, Wu F, et al. Genomic variations of the mevalonate pathway in porokeratosis. Elife. 2015:4:e06322. doi:10.7554/eLife.06322
  • Oliveira RTG, Simoneti FS, Agostinho GLPL, et al. A rare case of multiple variants of porokeratosis in the same patient: the clue of dermoscopy for diagnosis and therapeutical update. Dermatol Ther. 2020;33(3):e13274. doi:10.1111/dth.13274
  • Liu Y, Wang JX, Qin YY, et al. Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis. Clin. Chim. Acta. 2016;454:124–129. doi:10.1016/j.cca.2016.01.009
  • Abramovits W, Oquendo M. Introduction to autoinflammatory syndromes and diseases. Dermatol Clin. 2013;31(3):363–385. doi:10.1016/j.det.2013.04.010
  • Dumas M, Corre F, Payance A, et al. Eruptive disseminated superficial porokeratosis associated with acute hepatitis E. Ann Dermatol Venereol. 2019;146(10):655–658. doi:10.1016/j.annder.2019.05.004
  • Lu WS, Zheng XD, Yao XH, et al. A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis. Mol Biol Rep. 2014;41(11):7229–7233. doi:10.1007/s11033-014-3609-4
  • Romagnuolo M, Riva D, Violetti SA, et al. Disseminated superficial actinic porokeratosis following hydroxyurea treatment: a case report. Australas J Dermatol. 2023;64(1):e72–e75. doi:10.1111/ajd.13943
  • Jin R, Luo X, Luan K, et al. Disorder of the mevalonate pathway inhibits calcium-induced differentiation of keratinocytes. Mol Med Rep. 2017;16(4):4811–4816. doi:10.3892/mmr.2017.7128
  • Zhu T, Tian D, Zhang L, et al. Novel mutations in mevalonate kinase cause disseminated superficial actinic porokeratosis. Br J Dermatol. 2019;181(2):304–313. doi:10.1111/bjd.17596
  • Li M, Li Z, Wang J, et al. Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis. J Eur Acad Dermatol Venereol. 2016;30(9):1512–1517. doi:10.1111/jdv.13653
  • Zhu PQ, Yan HM, Zhao HJ, et al. A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis. Br J Dermatol. 2019;180(6):1545–1546. doi:10.1111/bjd.17531
  • Li L, Zuo N, Yang DY, et al. Novel missense mutations of MVK and FDPS gene in Chinese patients with disseminated superficial actinic porokeratosis. Clin Chim Acta. 2021;523:441–445. doi:10.1016/j.cca.2021.10.026
  • Shi WH, Fu XA, Wang ZZ, et al. Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm). J Dermatol Sci. 2021;101(1):75–77. doi:10.1016/j.jdermsci.2020.10.013
  • Tao L, Huang YK, Yan KX, et al. A preliminary study of peripheral T-cell subsets in porokeratosis patients with MVK or MVD variants. Skin Health Dis. 2022;2(1):e82. doi:10.1002/ski2.82
  • Chen HH, Liao YH. Onychodystrophy in congenital linear porokeratosis. Br J Dermatol. 2002;147(6):1272–1273. doi:10.1046/j.1365-2133.2002.05000_7.x
  • Shiiya C, Aoki S, Nakabayashi K, et al. Linear and disseminated porokeratosis in one family showing identical and independent second hits in MVD among skin lesions, respectively: a proof-of-concept study. Br J Dermatol. 2021;184(6):1209–1212. doi:10.1111/bjd.19824
  • Leng YJ, Yan LL, Feng HQ, et al. Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. J Dermatol. 2018;45(7):862–866. doi:10.1111/1346-8138.14343
  • Qian WJ, Wu J, Tang HY, et al. Mutation analysis of the MVD gene in a Chinese family with disseminated superficial actinic porokeratosis and a Chinese literature review. Indian J Dermatol. 2021;66(2):126–131. doi:10.4103/ijd.IJD_226_18
  • Arisawa Y, Ito Y, Tanahashi K, et al. Two cases of porokeratosis with MVD mutations, in association with bullous pemphigoid. Acta Derm Venereol. 2021;101(3):adv00423. doi:10.2340/00015555-3764