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[加里-加里病。对18例患者的病例系列进行临床和组织病理学研究]

[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients].

作者信息

Hanneken S, Rütten A, Eigelshoven S, Braun-Falco M, Pasternack S M, Ruzicka T, Nöthen M M, Betz R C, Kruse R

机构信息

Hautklinik, Universitätsklinikum Düsseldorf, Moorenstr. 5, 40225 Düsseldorf.

出版信息

Hautarzt. 2011 Nov;62(11):842-51. doi: 10.1007/s00105-011-2222-x.

DOI:10.1007/s00105-011-2222-x
PMID:21971768
Abstract

Galli-Galli disease, a rare genodermatosis belonging to the spectrum of reticulate pigment dermatoses, is classified as an acantholytic variant of Dowling-Degos disease on the basis of its characteristic clinical and histological findings. In the context of this case series, Galli-Galli disease is characterized in detail based on the clinical and histopathological evaluation of 18 patients. The disease pattern is discussed in view of the current literature. In addition, a classification into two clinical subtypes is made and a genotype/phenotype correlation with mutations in the keratin 5 (KRT5) gene is established.

摘要

加里 - 加里病是一种罕见的遗传性皮肤病,属于网状色素性皮肤病范畴,根据其特征性的临床和组织学表现,被归类为道林 - 迪戈斯病的棘层松解变异型。在这个病例系列中,基于对18例患者的临床和组织病理学评估,对加里 - 加里病进行了详细的特征描述。结合当前文献对该病模式进行了讨论。此外,将其分为两种临床亚型,并建立了与角蛋白5(KRT5)基因突变的基因型/表型相关性。

相似文献

1
[Galli-Galli disease. Clinical and histopathological investigation using a case series of 18 patients].[加里-加里病。对18例患者的病例系列进行临床和组织病理学研究]
Hautarzt. 2011 Nov;62(11):842-51. doi: 10.1007/s00105-011-2222-x.
2
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.对 KRT5 进行系统突变筛查支持 Galli-Galli 病是 Dowling-Degos 病的一种变体的假说。
Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5.
3
[Galli-Galli disease. Review of the literature].
Hautarzt. 2013 Apr;64(4):282. doi: 10.1007/s00105-013-2561-x.
4
The expanding spectrum of Galli-Galli disease.加利-加利病不断扩大的谱系。
J Am Acad Dermatol. 2007 May;56(5 Suppl):S86-91. doi: 10.1016/j.jaad.2006.10.987.
5
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease.加利-加利病是道林-德戈斯病的一种棘层松解变异型。
Br J Dermatol. 2007 Mar;156(3):572-4. doi: 10.1111/j.1365-2133.2006.07703.x.
6
Galli-Galli disease is an acantholytic variant of Dowling-Degos disease: additional genetic evidence in a German family.加里-加里病是道林-德戈斯病的一种棘层松解变异型:一个德国家庭的额外遗传学证据。
J Am Acad Dermatol. 2012 Jun;66(6):e250-1. doi: 10.1016/j.jaad.2011.07.038.
7
Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease.一个患有加里-加里病的家族中角蛋白5的杂合移码突变。
Br J Dermatol. 2014 Jun;170(6):1362-5. doi: 10.1111/bjd.12813.
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Disseminated papular variant of Dowling-Degos disease: Histopathological features in POGLUT1 mutation.Dowling-Degos病的播散性丘疹变异型:POGLUT1突变的组织病理学特征
J Dtsch Dermatol Ges. 2022 Nov;20(11):1423-1429. doi: 10.1111/ddg.14897. Epub 2022 Oct 31.
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Galli-Galli disease: an unrecognized entity or an acantholytic variant of Dowling-Degos disease?加里-加里病:一种未被认识的疾病实体还是Dowling-Degos病的棘层松解变异型?
J Am Acad Dermatol. 2001 Nov;45(5):760-3. doi: 10.1067/mjd.2001.116340.
10
Dowling-Degos disease: a review.Dowling-Degos 病:综述。
Int J Dermatol. 2021 Aug;60(8):944-950. doi: 10.1111/ijd.15385. Epub 2020 Dec 23.

引用本文的文献

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Genetic and Phenotypic Features of 2 Northern Italy Families with Dowling-Degos Disease Type 4.意大利北部两个患有4型Dowling-Degos病家族的遗传和表型特征
JID Innov. 2025 Mar 20;5(4):100364. doi: 10.1016/j.xjidi.2025.100364. eCollection 2025 Jul.
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EBS in Children with De Novo Pathogenic Variants Disturbing .患有扰乱新发致病变异的儿童中的EBS(Epidermolysis Bullosa Simplex,单纯性大疱性表皮松解症,此处EBS具体含义需结合上下文确定)
Int J Mol Sci. 2024 Mar 4;25(5):2989. doi: 10.3390/ijms25052989.
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Galli-Galli Disease: A Comprehensive Literature Review.

本文引用的文献

1
Spontaneous fading of reticular pigmentation in Naegeli-Franceschetti-Jadassohn syndrome.
Dermatology. 2010;221(2):135-6. doi: 10.1159/000314693. Epub 2010 Jun 26.
2
[Classical and atypical presentations of Galli-Galli disease].[加利-加利病的经典与非典型表现]
Hautarzt. 2010 Apr;61(4):284-6. doi: 10.1007/s00105-010-1936-5.
3
[Galli-Galli disease presenting as lichenoid papules in the flexures].[以屈侧苔藓样丘疹为表现的加里-加里病]
Actas Dermosifiliogr. 2010 Mar;101(2):168-72.
加利-加利病:全面的文献综述
Dermatopathology (Basel). 2024 Feb 7;11(1):79-100. doi: 10.3390/dermatopathology11010008.
4
Exacerbation of Galli-Galli Disease Following Dialysis Treatment: A Case Report and Review of Aggravating Factors.透析治疗后加里-加里病病情加重:一例病例报告及加重因素综述
Cureus. 2021 Jun 2;13(6):e15401. doi: 10.7759/cureus.15401. eCollection 2021 Jun.
5
Multiple roles for O-glycans in Notch signalling.O-聚糖在 Notch 信号通路中的多种作用。
FEBS Lett. 2018 Dec;592(23):3819-3834. doi: 10.1002/1873-3468.13251. Epub 2018 Nov 28.
6
Structural analysis of Notch-regulating Rumi reveals basis for pathogenic mutations.Notch调节蛋白Rumi的结构分析揭示了致病突变的基础。
Nat Chem Biol. 2016 Sep;12(9):735-40. doi: 10.1038/nchembio.2135. Epub 2016 Jul 18.
7
The First Report of KRT5 Mutation Underlying Acantholytic Dowling-Degos Disease with Mottled Hypopigmentation in an Indian Family.印度家族中伴有斑驳性色素减退的棘层松解性Dowling-Degos病相关KRT5突变的首次报告
Indian J Dermatol. 2014 Sep;59(5):476-80. doi: 10.4103/0019-5154.139884.
8
Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.POGLUT1 基因突变导致常染色体显性遗传的 Dowling-Degos 病。
Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.
4
Systematic mutation screening of KRT5 supports the hypothesis that Galli-Galli disease is a variant of Dowling-Degos disease.对 KRT5 进行系统突变筛查支持 Galli-Galli 病是 Dowling-Degos 病的一种变体的假说。
Br J Dermatol. 2010 Jul;163(1):197-200. doi: 10.1111/j.1365-2133.2010.09741.x. Epub 2010 Mar 5.
5
Changing a concept--controversy on the confusing spectrum of the reticulate pigmented disorders of the skin.改变一种观念——关于皮肤网状色素沉着性疾病复杂谱系的争议
J Cutan Pathol. 2009 Jan;36(1):44-8. doi: 10.1111/j.1600-0560.2008.00995.x. Epub 2008 Jun 17.
6
Galli-Galli disease: A case report with review of the literature.加利-加利病:一例病例报告并文献复习
J Am Acad Dermatol. 2008 Feb;58(2):299-302. doi: 10.1016/j.jaad.2007.05.041.
7
Macro-micro dermatology: erythematous papules and lentigo-like macules--a new entity?宏观-微观皮肤病学:红斑丘疹和雀斑样斑疹——一种新的疾病实体?
J Dtsch Dermatol Ges. 2007 Aug;5(8):645-6. doi: 10.1111/j.1610-0387.2007.06451.x.
8
Generalized Dowling-Degos disease.泛发性道林-德戈斯病
J Am Acad Dermatol. 2007 Aug;57(2):327-34. doi: 10.1016/j.jaad.2006.12.023.
9
The expanding spectrum of Galli-Galli disease.加利-加利病不断扩大的谱系。
J Am Acad Dermatol. 2007 May;56(5 Suppl):S86-91. doi: 10.1016/j.jaad.2006.10.987.
10
Identification of a keratin-associated protein with a putative role in vesicle transport.
Eur J Cell Biol. 2007 Dec;86(11-12):827-39. doi: 10.1016/j.ejcb.2007.02.004. Epub 2007 Mar 29.