Case report: Difference in outcomes between two cases of Hailey-Hailey disease treated with apremilast.
ATP2C1
Hailey-Hailey disease
apremilast
familial benign chronic pemphigus
phosphodiesterase-4 inhibitor
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2022
2022
Historique:
received:
26
02
2022
accepted:
23
08
2022
entrez:
24
10
2022
pubmed:
25
10
2022
medline:
25
10
2022
Statut:
epublish
Résumé
Hailey-Hailey disease (HHD) is a rare autosomal dominant acantholytic dermatosis clinically characterized by recurrent erythematous plaques and erosions mainly on the intertriginous regions. Although HHD seriously affects quality of life, conventional treatments often fail to provide long-term relief for most patients. The effectiveness of apremilast, a phosphodiesterase-4 inhibitor, against severe HHD was first reported in 2018, and after further testing, this agent is currently expected to be established as an efficacious and safe therapeutic option. Here we report two cases of HHD treated with apremilast which showed opposite outcomes. Although the case with extremely severe symptoms showed remarkable and long-lasting improvement with apremilast used after acute treatment with oral corticosteroid, the other case, with milder symptoms treated only with apremilast, showed no improvement. Our transcriptome analysis using skin samples collected prior to apremilast administration revealed the involvement of the NF-κB signaling pathway, which is related to the responses to bacteria and other organisms. However, this pathway was more strongly activated in case 2 than in case 1, suggesting that the steroid treatment preceding apremilast may have been effective and supportive in the apremilast-responding case. One of the two cases highlights the potential of apremilast as a treatment option for HHD, but the other underlines the difficulties in managing HHD and the complexity of the disease background. The accumulation of cases and larger clinical studies are expected to precisely evaluate the safety and efficacy of apremilast, and the potential for therapies in combination with conventional treatments.
Identifiants
pubmed: 36276960
doi: 10.3389/fgene.2022.884359
pii: 884359
pmc: PMC9583697
doi:
Types de publication
Case Reports
Langues
eng
Pagination
884359Informations de copyright
Copyright © 2022 Yamaga, Miyauchi, Peh, Itamoto, Mai, Iwata, Nomura and Ujiie.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Cell Mol Life Sci. 2017 Oct;74(20):3687-3696
pubmed: 28551824
Front Immunol. 2020 Oct 27;11:588315
pubmed: 33193415
JAMA Dermatol. 2018 Dec 1;154(12):1453-1456
pubmed: 30304341
Nat Genet. 2000 May;25(1):25-9
pubmed: 10802651
J Am Acad Dermatol. 2018 Mar;78(3 Suppl 1):S43-S52
pubmed: 29248522
Am J Clin Dermatol. 2020 Feb;21(1):49-68
pubmed: 31595434
BMC Bioinformatics. 2011 Aug 04;12:323
pubmed: 21816040
Clin Exp Dermatol. 2020 Aug;45(6):737-739
pubmed: 32198945
Bioinformatics. 2013 Jan 1;29(1):15-21
pubmed: 23104886
BMC Bioinformatics. 2018 Dec 19;19(1):534
pubmed: 30567491
Clin Exp Dermatol. 2020 Jul;45(5):604-605
pubmed: 31930532
Dermatol Ther. 2020 Nov;33(6):e14261
pubmed: 32876993
Nucleic Acids Res. 2018 Jan 4;46(D1):D380-D386
pubmed: 29087512
Ital J Dermatol Venerol. 2021 Dec;156(6):727-728
pubmed: 32129590
J Dermatol. 2021 Dec;48(12):1945-1948
pubmed: 34569085
Nat Commun. 2019 Apr 3;10(1):1523
pubmed: 30944313