Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid

Authors

  • Yuki Arisawa
  • Yasutoshi Ito
  • Kana Tanahashi
  • Yoshinao Muro
  • Tomoo Ogi
  • Takuya Takeichi Department of Dermatology, Nagoya University Graduate School of Medicine, 466-8560 Nagoya, Japan
  • Masashi Akiyama

DOI:

https://doi.org/10.2340/00015555-3764

Keywords:

autoinflammation, mevalonate pathway, mutation

Abstract

Abstract is missing (Short communication)

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References

Leng Y, Yan L, Feng H, Chen C, Wang S, Luo Y, et al. Mutations in mevalonate pathway genes in patients with familial or sporadic porokeratosis. J Dermatol 2018; 45: 862-866.

DOI: https://doi.org/10.1111/1346-8138.14343

Takeichi T, Akiyama M. Familial or sporadic porokeratosis as an autoinflammatory keratinization disease. J Dermatol 2019; 46: e125-e126.

DOI: https://doi.org/10.1111/1346-8138.14666

Taki T, Takeichi T, Kono M, Sugiura K, Sugimura Y, Ishii N, et al. A patient with bullous pemphigoid with mucosal involvement serologically positive for anti-BP230 autoantibodies only. Br J Dermatol 2020; 182: 221-223.

DOI: https://doi.org/10.1111/bjd.18343

Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, et al. Correction: genomic variations of the mevalonate pathway in porokeratosis. Elife 2016; 5: e14383.

DOI: https://doi.org/10.7554/eLife.14383

Atzmony L, Khan HM, Lim YH, Paller AS, Levinsohn JL, Holland KE, et al. Second-hit, postzygotic PMVK and MVD mutations in linear porokeratosis. JAMA Dermatol 2019; 155: 548-555.

DOI: https://doi.org/10.1001/jamadermatol.2019.0016

Atzmony L, Lim YH, Hamilton C, Leventhal JS, Wagner A, Paller AS, et al. Topical cholesterol/lovastatin for the treatment of porokeratosis: a pathogenesis-directed therapy. J Am Acad Dermatol 2020; 82: 123-131.

DOI: https://doi.org/10.1016/j.jaad.2019.08.043

Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, et al. Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes. J Invest Dermatol 2019; 139: 2458-2466.e9.

DOI: https://doi.org/10.1016/j.jid.2019.05.020

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, et al. HGVS recommendations for the description of sequence variants: 2016 update. Hum Mutat 2016; 37: 564-569.

DOI: https://doi.org/10.1002/humu.22981

Schamroth JM, Zlotogorski A, Gilead L. Porokeratosis of Mibelli. Overview and review of the literature. Acta Derm Venereol 1997; 77: 207-213.

Buhl T, Wienrich BG, Sieblist C, Schon MP, Seitz CS. Development of segmental superficial actinic porokeratosis during immunosuppressive therapy for pemphigus vulgaris. Acta Derm Venereol 2010; 90: 212-213.

DOI: https://doi.org/10.2340/00015555-0800

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Published

2021-03-31

How to Cite

Arisawa, Y., Ito, Y., Tanahashi, K., Muro, Y., Ogi, T., Takeichi, T., & Akiyama, M. (2021). Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid. Acta Dermato-Venereologica, 101(3), adv00423. https://doi.org/10.2340/00015555-3764

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