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Hidradenitis suppurativa in a long-lived patient with trisomy 13.

作者信息

Tabata Nobuko, Togashi Noriko

机构信息

Department of Dermatology, Red Cross Sendai Hospital, Sendai, Japan.

The Department of Neurology, Miyagi Children's Hospital, Sendai, Japan.

出版信息

JAAD Case Rep. 2020 May 1;6(6):528-530. doi: 10.1016/j.jdcr.2020.04.002. eCollection 2020 Jun.

DOI:10.1016/j.jdcr.2020.04.002
PMID:32490117
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7256227/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/95188b212bbe/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/1426e88ca422/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/a75e84d4f364/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/7b9401f216b1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/95188b212bbe/gr4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/1426e88ca422/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/a75e84d4f364/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/7b9401f216b1/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/71ba/7256227/95188b212bbe/gr4.jpg

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本文引用的文献

1
Acne conglobata in a long-term survivor with trisomy 13, accompanied by selective IgM deficiency.一名13三体综合征长期存活者患聚合性痤疮，伴有选择性IgM缺乏。
Am J Med Genet A. 2017 Jul;173(7):1903-1906. doi: 10.1002/ajmg.a.38251. Epub 2017 May 7.
2
Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.13三体和18三体患儿的生存情况：一项基于多州人群的研究。
Am J Med Genet A. 2016 Apr;170A(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10.
3
Intractable nodulocystic acne in a patient with trisomy 13.
一名13三体综合征患者的难治性结节囊肿性痤疮。
Pediatr Dermatol. 2015 May-Jun;32(3):381-2. doi: 10.1111/pde.12511. Epub 2015 Jan 30.
4
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis.SNP 阵列分析检测到 13q 染色体异常与低黑色素沉着的叶状模式密切相关。
Dermatology. 2012;225(4):294-7. doi: 10.1159/000342884. Epub 2012 Oct 24.
5
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).化脓性汗腺炎（反向性痤疮）中的PSENEN和NCSTN突变
J Invest Dermatol. 2011 Jul;131(7):1568-70. doi: 10.1038/jid.2011.42. Epub 2011 Mar 17.
6
Gamma-secretase gene mutations in familial acne inversa.家族性化脓性汗腺炎中γ-分泌酶基因突变。
Science. 2010 Nov 19;330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.
7
Extensive comedonal and cystic acne in Patau syndrome.帕陶综合征患者出现广泛的粉刺性和囊性痤疮。
Pediatr Dermatol. 2010 Mar-Apr;27(2):199-200. doi: 10.1111/j.1525-1470.2010.01098.x.
8
Phylloid hypomelanosis and mosaic partial trisomy 13: two cases that provide further evidence of a distinct clinicogenetic entity.叶状色素减退症与13号染色体镶嵌型部分三体：两例进一步证明独特临床遗传实体的病例
Arch Dermatol. 2009 May;145(5):576-8. doi: 10.1001/archdermatol.2009.37.
9
A novel connexin 26 gene mutation associated with features of the keratitis-ichthyosis-deafness syndrome and the follicular occlusion triad.一种与角膜炎-鱼鳞病-耳聋综合征及毛囊闭锁三联征特征相关的新型连接蛋白26基因突变。
J Am Acad Dermatol. 2004 Sep;51(3):377-82. doi: 10.1016/j.jaad.2003.12.042.
10
Acne in retarded boy with autosomal chromosomal abnormality.
Arch Dermatol. 1976 Jun;112(6):859-61.