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PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?

作者信息

Li Chengrang, Li Wenrui, Xu Haoxiang, Zhang Xiaofeng, Su Bin, Zhang Wanlu, Zhang Xue, Wang Baoxi

机构信息

Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Nanjing, Jiangsu, China; Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China.

Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Nanjing, Jiangsu, China.

出版信息

J Invest Dermatol. 2017 Oct;137(10):2234-2236. doi: 10.1016/j.jid.2017.05.021. Epub 2017 Jun 8.

DOI:10.1016/j.jid.2017.05.021
PMID:28601418
Abstract
摘要

相似文献

1
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?伴有反向性痤疮（AI）和道林-迪戈斯病（DDD）共同表现的早老素增强子（PSENEN）突变携带者：AI还是DDD是亚表型？
J Invest Dermatol. 2017 Oct;137(10):2234-2236. doi: 10.1016/j.jid.2017.05.021. Epub 2017 Jun 8.
2
Intra- and Interfamilial Phenotype Variability Associated with Mutations in γ-Secretase Subunit-Encoding PSENEN.与γ-分泌酶亚基编码基因PSENEN突变相关的家族内和家族间表型变异性
J Invest Dermatol. 2018 May;138(5):1215-1218. doi: 10.1016/j.jid.2017.09.050. Epub 2017 Nov 11.
3
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.编码γ-分泌酶亚基的PSENEN基因突变是与反向性痤疮相关的道林-迪戈斯病的基础。
J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
4
Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling.反向性痤疮与银屑病及伴有PSENEN-Notch信号传导受损的Dowling-Degos病共存。
Chin Med J (Engl). 2020 Oct 5;133(19):2383-2385. doi: 10.1097/CM9.0000000000001040.
5
Novel Mutations in Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.两个中国反向性痤疮家族中基因的新型突变表现为家族性多发性粉刺和Dowling-Degos病。
Chin Med J (Engl). 2016 Dec 5;129(23):2834-2839. doi: 10.4103/0366-6999.194648.
6
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.一种由 PSENEN 中的创始突变引起的同时具有化脓性汗腺炎和 Dowling-Degos 病表型的疾病。
Br J Dermatol. 2018 Feb;178(2):502-508. doi: 10.1111/bjd.16000. Epub 2017 Dec 18.
7
Concurrent hidradenitis suppurativa and Dowling-Degos disease taken down a 'Notch'.化脓性汗腺炎与道林-迪戈斯病并存使“Notch”失效。
Br J Dermatol. 2018 Feb;178(2):328. doi: 10.1111/bjd.16068.
8
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder.与化脓性汗腺炎-道林-德戈斯病相关的新型POFUT1突变进一步明确了Notch信号通路在该疾病发病机制中的作用。
Br J Dermatol. 2018 Apr;178(4):984-986. doi: 10.1111/bjd.16264. Epub 2018 Feb 15.
9
Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder: reply from the authors.与化脓性汗腺炎-道林-迪戈斯病相关的新型POFUT1突变进一步明确了Notch信号通路在该疾病发病机制中的作用：作者回复
Br J Dermatol. 2018 Apr;178(4):986. doi: 10.1111/bjd.16274. Epub 2018 Mar 2.
10
Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.合并症还是不同的实体？与PSENEN突变相关的表型变异性。
Br J Dermatol. 2019 Jan;180(1):221-222. doi: 10.1111/bjd.17111. Epub 2018 Oct 16.

引用本文的文献

1
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.《可能与化脓性汗腺炎相关的变异综合目录，包括来自 100 例患者队列的新鉴定变异》
Int J Mol Sci. 2024 Sep 26;25(19):10374. doi: 10.3390/ijms251910374.
2
Holistic health record for Hidradenitis suppurativa patients.化脓性汗腺炎患者的整体健康记录。
Sci Rep. 2022 May 19;12(1):8415. doi: 10.1038/s41598-022-11910-5.
3
The Genomic Architecture of Hidradenitis Suppurativa-A Systematic Review.
化脓性汗腺炎的基因组结构——一项系统综述
Front Genet. 2022 Mar 23;13:861241. doi: 10.3389/fgene.2022.861241. eCollection 2022.
4
Middle of the breasts pigmentation in a pedigree with POFUT1-related Dowling-Degos disease, expansion of the phenotype.在一个与POFUT1相关的Dowling-Degos病家系中出现乳房中部色素沉着，表型扩展。
Postepy Dermatol Alergol. 2021 Jun;38(3):526-527. doi: 10.5114/ada.2021.107939. Epub 2021 Jul 26.
5
γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.化脓性汗腺炎的 γ-分泌酶遗传学：系统文献回顾。
Dermatology. 2021;237(5):698-704. doi: 10.1159/000512455. Epub 2020 Dec 17.
6
Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease.化脓性汗腺炎可能是一种炎症性角化病的潜在亚型。
Front Immunol. 2020 May 20;11:847. doi: 10.3389/fimmu.2020.00847. eCollection 2020.
7
Novel nicastrin mutation in hidradenitis suppurativa-Dowling-Degos disease clinical phenotype: more than just clinical overlap?化脓性汗腺炎-道林-迪戈斯病临床表型中的新型尼卡斯特林突变：仅仅是临床重叠吗？
Br J Dermatol. 2020 Oct;183(4):758-759. doi: 10.1111/bjd.19121. Epub 2020 May 26.
8
An Integrated Approach to Unravel Hidradenitis Suppurativa Etiopathogenesis.综合解析化脓性汗腺炎发病机制。
Front Immunol. 2019 Apr 25;10:892. doi: 10.3389/fimmu.2019.00892. eCollection 2019.