Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation

Authors

  • Kazunori Yokoi Department of Dermatology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita-shi, Osaka 565-0871, Japan
  • Noriko Arase Department of Dermatology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita-shi, Osaka 565-0871, Japan https://orcid.org/0000-0003-3966-3437
  • Takashi Shimbo Department of Stem Cell Therapy Science, Graduate School of Medicine, Osaka University, Suita, Japan
  • Manabu Fujimoto Department of Dermatology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita-shi, Osaka 565-0871, Japan https://orcid.org/0000-0002-3062-4872
  • Atsushi Tanemura Department of Dermatology, Graduate School of Medicine, Osaka University, 2-2 Yamadaoka, Suita-shi, Osaka 565-0871, Japan https://orcid.org/0000-0002-5239-8474

DOI:

https://doi.org/10.2340/actadv.v103.4550

Keywords:

Epidermodysplasia verruciformis, TMC6, Squamous cell carcinoma, Splice-site mutation, Human papillomavirus

Abstract

Abstract is missing (Short communication)

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References

Lewandowsky F, Lutz W. Ein Fall einer bisher nicht beschriebenen Hauterkrankung (epidermodysplasia verruciformis). Arch Dermatol Syphilol 1922; 14: 193-203.

https://doi.org/10.1007/BF01938833 DOI: https://doi.org/10.1007/BF01938833

Cardoso JC, Calonje E. Cutaneous manifestations of human papillomaviruses: a review. Acta Dermatovenerol Alp Pannonica Adriat 2011; 20: 145-154.

Bouvard V, Baan R, Straif K, Grosse Y, Secretan B, Ghissassi El F, et al. A review of human carcinogens - part B: biological agents. Lancet Oncol 2009; 10: 321-322.

https://doi.org/10.1016/S1470-2045(09)70096-8 DOI: https://doi.org/10.1016/S1470-2045(09)70096-8

Przybyszewska J, Zlotogorski A, Ramot Y. Re-evaluation of epidermodysplasia verruciformis: reconciling more than 90 years of debate. J Am Acad Dermatol 2017; 76: 1161-1175.

https://doi.org/10.1016/j.jaad.2016.12.035 DOI: https://doi.org/10.1016/j.jaad.2016.12.035

Huang S, Wu JH, Lewis DJ, Rady PL, Tyring SK. A novel approach to the classification of epidermodysplasia verruciformis. Int J Dermatol 2018; 57: 1344-1350.

https://doi.org/10.1111/ijd.14196 DOI: https://doi.org/10.1111/ijd.14196

Forslund O, Ly H, Higgins G. Improved detection of cutaneous human papillomavirus DNA by single tube nested 'hanging droplet' PCR. J Virol Methods 2003; 110: 129-136.

https://doi.org/10.1016/S0166-0934(03)00109-5 DOI: https://doi.org/10.1016/S0166-0934(03)00109-5

Aochi S, Nakanishi G, Suzuki N, Setsu N, Suzuki D, Aya K, et al. A novel homozygous mutation of the EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. Br J Dermatol 2007; 157: 1265-1266.

https://doi.org/10.1111/j.1365-2133.2007.08206.x DOI: https://doi.org/10.1111/j.1365-2133.2007.08206.x

Ramoz N, Rueda LA, Bouadjar B, Montoya LS, Orth G, Favre M. Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis. Nat Genet 2002; 32: 579-581.

https://doi.org/10.1038/ng1044 DOI: https://doi.org/10.1038/ng1044

Tate G, Suzuki T, Kishimoto K, Mitsuya T. Novel mutations of EVER1/TMC6 gene in a Japanese patient with epidermodysplasia verruciformis. J Hum Genet 2004; 49: 223-225.

https://doi.org/10.1007/s10038-004-0135-6 DOI: https://doi.org/10.1007/s10038-004-0135-6

Sunohara M, Ozawa T, Morimoto K, Harada T, Ishii M, Fukai K. Dye laser photodynamic therapy for Bowen's disease in a patient with epidermodysplasia verruciformis. Osaka City Med J 2012; 58: 77-82.

Zuo YG, Ma D, Zhang Y, Qiao J, Wang B. Identification of a novel mutation and a genetic polymorphism of EVER1 gene in two families with epidermodysplasia verruciformis. J Dermatol Sci 2006; 44: 153-159.

https://doi.org/10.1016/j.jdermsci.2006.08.013 DOI: https://doi.org/10.1016/j.jdermsci.2006.08.013

Gober MD, Rady PL, He Q, Tucker SB, Tyring SK, Gaspari AA. Novel homozygous frameshift mutation of EVER1 gene in an epidermodysplasia verruciformis patient. J Invest Dermatol 2007; 127: 817-820.

https://doi.org/10.1038/sj.jid.5700641 DOI: https://doi.org/10.1038/sj.jid.5700641

Youssefian L, Vahidnezhad H, Mahmoudi H, Saeidian AH, Daneshpazhooh M, Kamyab HK, et al. Epidermodysplasia verruciformis: genetic heterogeneity and EVER1 and EVER2 mutations revealed by genome-wide analysis. J Invest Dermatol 2019; 139: 241-244.

https://doi.org/10.1016/j.jid.2018.07.010 DOI: https://doi.org/10.1016/j.jid.2018.07.010

López-Ramírez S, Santillán-Hernández Y, Carrasco-Gerard E, Rodas-Serrano A, Zenteno JC. Next-generation sequencing identifies a homozygous nonsense p.Tyr370* mutation of the TMC6 gene in a Mexican pedigree with epidermodysplasia verruciformis. Rev Invest Clin 2021; 73: 129-131.

https://doi.org/10.24875/RIC.20000415 DOI: https://doi.org/10.24875/RIC.20000415

Wang R, Liu J, Yang X, Habulieti X, Yu X, Sun L, et al. Identification and splicing characterization of novel TMC6 and TMC8 variants associated with epidermodysplasia verruciformis in three Chinese families. Front Genet 2021; 12: 712275.

https://doi.org/10.3389/fgene.2021.712275 DOI: https://doi.org/10.3389/fgene.2021.712275

Published

2023-01-27

How to Cite

Yokoi, K., Arase, N., Shimbo, T., Fujimoto, M., & Tanemura, A. (2023). Aggressive Squamous Cell Carcinoma in a Case of Epidermodysplasia Verruciformis Carrying a TMC6 Splice-site Mutation. Acta Dermato-Venereologica, 103, adv00858. https://doi.org/10.2340/actadv.v103.4550

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