Suppr超能文献

化脓性汗腺炎与加里-加里病相关:扩展与道林-迪戈斯病的联系

Hidradenitis Suppurativa Associated with Galli-Galli Disease: Extending the Link with Dowling-Degos Disease.

作者信息

Del Mar María, González Meléndez, Sayed Christopher, Phadke Pushkar

机构信息

Ms. Meléndez González is with the Universidad Central del Caribe School of Medicine in Bayamon, Puerto Rico.

Dr. Sayed is with the Department of Dermatology at the University of North Carolina School of Medicine in Chapel Hill, North Carolina.

出版信息

J Clin Aesthet Dermatol. 2020 Dec;13(12):38-40. Epub 2020 Dec 1.

Abstract

Galli-Galli disease (GGD) is a rare genodermatosis that is distinguished from Dowling-Degos disease (DDD) by the histologic finding of acantholysis. We present a case of a female patient with pruritic intertriginous plaques and history of hidradenitis suppurativa (HS). While reports exist associating DDD with HS, to our knowledge, GGD in association with HS has not been reported in recent literature. HS in association with DDD has been found to have causal mutations, involving the gamma-secretase complex and POFUT1 genes. DDD also has shared causal mutations with GGD in the POGLUT1 and KRT5 genes. These three skin diseases have been linked to different gene mutations, which are all associated with the Notch signaling pathway.

摘要

加里-加里病(GGD)是一种罕见的遗传性皮肤病,通过棘层松解的组织学表现与道林-迪戈斯病(DDD)相鉴别。我们报告一例患有瘙痒性间擦疹斑块且有化脓性汗腺炎(HS)病史的女性患者。虽然有报道将DDD与HS相关联,但据我们所知,近期文献中尚未报道GGD与HS相关。已发现与DDD相关的HS存在因果突变,涉及γ-分泌酶复合物和POFUT1基因。DDD在POGLUT1和KRT5基因中也与GGD有共同的因果突变。这三种皮肤病与不同的基因突变有关,这些突变均与Notch信号通路相关。

相似文献

2
Galli-Galli Disease: A Comprehensive Literature Review.
Dermatopathology (Basel). 2024 Feb 7;11(1):79-100. doi: 10.3390/dermatopathology11010008.
3
Dowling-Degos disease: a review.
Int J Dermatol. 2021 Aug;60(8):944-950. doi: 10.1111/ijd.15385. Epub 2020 Dec 23.
4
Dowling-Degos Disease in the Anogenital Region.
Acta Dermatovenerol Croat. 2022 Dec;30(4):261-262.
5
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.
Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5.
7
Atypical Disseminated Variant of Galli-Galli Disease: A Review of the Literature.
Am J Dermatopathol. 2020 Jul;42(7):484-490. doi: 10.1097/DAD.0000000000001467.
8
A loss-of-function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa.
Exp Dermatol. 2023 Nov;32(11):1935-1945. doi: 10.1111/exd.14919. Epub 2023 Sep 4.
10
About a Rare Association Between Vulvar Dowling Degos Disease and HS.
Int J Womens Health. 2023 Mar 9;15:355-359. doi: 10.2147/IJWH.S398604. eCollection 2023.

引用本文的文献

1
Galli-Galli Disease: A Comprehensive Literature Review.
Dermatopathology (Basel). 2024 Feb 7;11(1):79-100. doi: 10.3390/dermatopathology11010008.
2
Follicular Dowling-Degos Disease with Hidradenitis Suppurativa: A Case Report and Review of the Literature.
Case Rep Dermatol. 2021 Nov 29;13(3):530-536. doi: 10.1159/000520541. eCollection 2021 Sep-Dec.

本文引用的文献

2
Mutations in the γ-secretase genes PSEN1, PSENEN, and NCSTN in a family with acne inversa.
Eur J Dermatol. 2018 Jun 1;28(3):374-376. doi: 10.1684/ejd.2018.3244.
4
A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
Br J Dermatol. 2018 Feb;178(2):502-508. doi: 10.1111/bjd.16000. Epub 2017 Dec 18.
5
Recognizing syndromic hidradenitis suppurativa: a review of the literature.
J Eur Acad Dermatol Venereol. 2017 Nov;31(11):1809-1816. doi: 10.1111/jdv.14464. Epub 2017 Sep 7.
6
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
J Clin Invest. 2017 Apr 3;127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
7
Mutations in POGLUT1 in Galli-Galli/Dowling-Degos disease.
Br J Dermatol. 2017 Jan;176(1):270-274. doi: 10.1111/bjd.14914. Epub 2016 Sep 24.
8
9
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.
Br J Dermatol. 2014 Jun;170(6):1362-5. doi: 10.1111/bjd.12813.
10
Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.
Am J Hum Genet. 2013 Jun 6;92(6):895-903. doi: 10.1016/j.ajhg.2013.04.022. Epub 2013 May 16.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验