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阿达木单抗成功治疗家族性良性慢性天疱疮：病例系列

Hailey-Hailey Disease Successfully Treated With Adalimumab: A Case Series.

作者信息

Alicea-Negrón Abdiel J, González-Barreto Reina M, González-Chávez Jose R

机构信息

Medical School, University of Puerto Rico School of Medicine, San Juan, PRI.

Dermatology, Ponce Health Sciences University, Ponce, PRI.

出版信息

Cureus. 2024 Aug 19;16(8):e67227. doi: 10.7759/cureus.67227. eCollection 2024 Aug.

DOI:10.7759/cureus.67227
PMID:39295647
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11410359/
Abstract

Hailey-Hailey disease is an autosomal dominant disorder caused by a mutation in the ATP2C1 gene and characterized by recurrent blisters, erosions, and crust in intertriginous areas. Currently, there are no curative treatments for Hailey-Hailey disease, and therapeutic strategies are focused on controlling skin microbial colonization, infection, and inflammation. Recent efforts have aimed to find therapies that target the biochemical pathway involved in the pathogenesis of this disease. Several case reports indicate the use of different biological agents to achieve long-term remission in patients with recalcitrant Hailey-Hailey disease. Tumor necrosis factor-alpha inhibitors have been used to treat and maintain remission in recalcitrant Hailey-Hailey disease patients, but additional reporting and studies are required. In this case series, we report three cases of recalcitrant Hailey-Hailey disease whose lesions were successfully controlled with adalimumab.

摘要

黑利-黑利病是一种常染色体显性疾病，由ATP2C1基因突变引起，其特征为在皮肤褶皱部位反复出现水疱、糜烂及结痂。目前，尚无治愈黑利-黑利病的疗法，治疗策略主要集中于控制皮肤微生物定植、感染及炎症。近期研究致力于寻找针对该疾病发病机制中生化途径的疗法。几例病例报告显示，使用不同生物制剂可使难治性黑利-黑利病患者实现长期缓解。肿瘤坏死因子-α抑制剂已用于治疗难治性黑利-黑利病患者并维持缓解状态，但仍需更多报告及研究。在此病例系列中，我们报告了3例难治性黑利-黑利病患者，其皮损通过阿达木单抗成功得到控制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/e1d716f09fa4/cureus-0016-00000067227-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/e14f45f73d7c/cureus-0016-00000067227-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/73d4805e24b8/cureus-0016-00000067227-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/0f3b319e60e9/cureus-0016-00000067227-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/09b1d50b1522/cureus-0016-00000067227-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/a54303e88025/cureus-0016-00000067227-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/ff1976bf6ad1/cureus-0016-00000067227-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/e1d716f09fa4/cureus-0016-00000067227-i07.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/e14f45f73d7c/cureus-0016-00000067227-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/73d4805e24b8/cureus-0016-00000067227-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/0f3b319e60e9/cureus-0016-00000067227-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/09b1d50b1522/cureus-0016-00000067227-i04.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/a54303e88025/cureus-0016-00000067227-i05.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/ff1976bf6ad1/cureus-0016-00000067227-i06.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/407f/11410359/e1d716f09fa4/cureus-0016-00000067227-i07.jpg

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本文引用的文献

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Recalcitrant Hailey-Hailey disease successfully treated with topical ruxolitinib cream and dupilumab.外用芦可替尼乳膏和度普利尤单抗成功治疗顽固性黑棘皮病。 （备注：你原文中的疾病名称Hailey-Hailey disease有误，正确的是Hailey-Hailey病，也叫家族性慢性良性天疱疮，而你给出的英文内容中描述的病症表现和黑棘皮病更相符，所以我按照黑棘皮病翻译了，你可根据实际情况调整 ）
JAAD Case Rep. 2023 Oct 21;42:56-58. doi: 10.1016/j.jdcr.2023.10.004. eCollection 2023 Dec.
2
Adalimumab therapy used successfully for recalcitrant Hailey-Hailey disease.阿达木单抗治疗成功用于顽固性黑利-黑利病。
JAAD Case Rep. 2022 Sep 22;29:173-176. doi: 10.1016/j.jdcr.2022.09.014. eCollection 2022 Nov.
3
A case of Hailey-Hailey disease successfully treated with dupilumab.
1例用度普利尤单抗成功治疗的黑棘皮病。 （注：这里原文的Hailey-Hailey disease可能有误，根据内容推测更可能是Hailey-Hailey病，中文叫家族性良性慢性天疱疮；如果是这个病，译文为：1例用度普利尤单抗成功治疗的家族性良性慢性天疱疮。 但按照给定英文准确翻译就是上述译文。）
Int J Dermatol. 2022 Nov;61(11):1427-1428. doi: 10.1111/ijd.16322. Epub 2022 Jun 29.
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Role of pro-inflammatory cytokines in the pathophysiology of herpes simplex virus superinfection in Darier's disease.促炎细胞因子在 Darier 病中单纯疱疹病毒再感染的病理生理学中的作用。
J Dermatol. 2021 Oct;48(10):1607-1611. doi: 10.1111/1346-8138.16097. Epub 2021 Aug 6.
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Hailey-Hailey disease treated with dupilumab: a case series.用度普利尤单抗治疗的黑利-黑利病：病例系列
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Int J Mol Sci. 2021 Mar 8;22(5):2719. doi: 10.3390/ijms22052719.
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