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先天性单纯性缺甲症在沙特单一家庭的不同代中出现。

Anonychia congenita in different generations of a single Saudi family.

机构信息

Dermatology Department, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Kingdom of Saudi Arabia. E-mail.

出版信息

Saudi Med J. 2020 Feb;41(2):195-198. doi: 10.15537/smj.2020.2.24884.

DOI:10.15537/smj.2020.2.24884
PMID:32020155
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7841626/
Abstract

Anonychia refers to the absence of nail plates owing to an autosomal dominant or recessive inheritance. Congenital anonychia is a rare condition that may be associated with other ectodermal or mesodermal malformations like epidermolysis bullosa, (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome and Iso-Kikuchi syndrome. Here, we report 3 cases with anonychia congenita appearing in different generations of a single family in Kingdom of Saudi Arabia.

摘要

先天性无甲症是一种罕见的疾病,可能与其他外胚层或中胚层畸形有关,如大疱性表皮松解症、(耳聋、甲营养不良、骨营养不良和智力迟钝)综合征和 Iso-Kikuchi 综合征。在这里,我们报告了沙特阿拉伯一个单一家庭的不同代中出现的 3 例先天性无甲症病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd52/7841626/bba16b948182/SaudiMedJ-41-195-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd52/7841626/966e2cb7c15b/SaudiMedJ-41-195-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd52/7841626/bba16b948182/SaudiMedJ-41-195-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd52/7841626/966e2cb7c15b/SaudiMedJ-41-195-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd52/7841626/bba16b948182/SaudiMedJ-41-195-g002.jpg

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Anonychia congenita in different generations of a single Saudi family.先天性单纯性缺甲症在沙特单一家庭的不同代中出现。
Saudi Med J. 2020 Feb;41(2):195-198. doi: 10.15537/smj.2020.2.24884.
2
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.编码Wnt信号成分R-spondin 4(RSPO4)的基因突变会导致常染色体隐性无甲畸形。
Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17.
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Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.先天性无甲症与难梳头发综合征:RSPO4和PADI3纯合突变的共同遗传
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引用本文的文献

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本文引用的文献

1
Congenital non-syndromic anonychia totalis with acroosteolysis.先天性非综合征性全甲缺如伴肢端骨质溶解
BMJ Case Rep. 2017 Nov 8;2017:bcr-2017-222743. doi: 10.1136/bcr-2017-222743.
2
A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia.一名常染色体隐性无甲畸形患者的RSPO4基因新突变。
Clin Exp Dermatol. 2017 Apr;42(3):313-315. doi: 10.1111/ced.13052. Epub 2017 Mar 1.
3
Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.先天性无甲症与难梳头发综合征:RSPO4和PADI3纯合突变的共同遗传
J Invest Dermatol. 2017 May;137(5):1176-1179. doi: 10.1016/j.jid.2016.12.015. Epub 2017 Jan 10.
4
Genetics of human isolated hereditary nail disorders.人类孤立遗传性指甲疾病的遗传学研究。
Br J Dermatol. 2015 Oct;173(4):922-9. doi: 10.1111/bjd.14023. Epub 2015 Sep 8.
5
RSPO4 is the major gene in autosomal-recessive anonychia and mutations cluster in the furin-like cysteine-rich domains of the Wnt signaling ligand R-spondin 4.RSPO4是常染色体隐性无甲症的主要基因,其突变集中在Wnt信号配体R-spondin 4富含半胱氨酸的弗林蛋白酶样结构域中。
J Invest Dermatol. 2008 Apr;128(4):791-6. doi: 10.1038/sj.jid.5701088. Epub 2007 Oct 4.
6
Mutations in R-spondin 4 (RSPO4) underlie inherited anonychia.R-脊椎蛋白4(RSPO4)的突变是遗传性无甲症的基础。
J Invest Dermatol. 2008 Apr;128(4):867-70. doi: 10.1038/sj.jid.5701078. Epub 2007 Sep 6.
7
Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.编码Wnt信号成分R-spondin 4(RSPO4)的基因突变会导致常染色体隐性无甲畸形。
Am J Hum Genet. 2006 Dec;79(6):1105-9. doi: 10.1086/509789. Epub 2006 Oct 17.
8
The gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia.编码R-spondin 4(RSPO4)的基因发生突变可导致遗传性无甲,RSPO4是一种参与Wnt信号传导的分泌蛋白。
Nat Genet. 2006 Nov;38(11):1245-7. doi: 10.1038/ng1883. Epub 2006 Oct 15.
9
Total congenital anonychia in two children of the same family.同一家族两名儿童患完全性先天性无甲畸形。
J Eur Acad Dermatol Venereol. 2006 Aug;20(7):894-6. doi: 10.1111/j.1468-3083.2006.01585.x.
10
Anonychia congenita totalis: a case report and review of the literature.先天性全甲缺失:一例病例报告及文献综述
Int J Dermatol. 2002 Jul;41(7):397-9. doi: 10.1046/j.1365-4362.2002.01535_1.x.