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Congenital hemidysplasia with ichthyosiform naevus and limb defects (CHILD) syndrome without hemidysplasia.

作者信息

Estapé A, Josifova D, Rampling D, Glover M, Kinsler V A

机构信息

Department of Paediatric Dermatology, Great Ormond Street Hospital for Children, London, WC1N 3JH, U.K.

Department of Genetics, Guy's Hospital, London, U.K.

出版信息

Br J Dermatol. 2015 Jul;173(1):304-7. doi: 10.1111/bjd.13636. Epub 2015 May 28.

DOI:10.1111/bjd.13636
PMID:25533639
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4737197/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14d1/4737197/b658620a9a01/BJD-173-304-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14d1/4737197/edc3dc34df9c/BJD-173-304-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14d1/4737197/b658620a9a01/BJD-173-304-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14d1/4737197/edc3dc34df9c/BJD-173-304-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/14d1/4737197/b658620a9a01/BJD-173-304-g002.jpg

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本文引用的文献

1
Targeting epidermal lipids for treatment of Mendelian disorders of cornification.靶向表皮脂质治疗孟德尔遗传性角化病。
Orphanet J Rare Dis. 2014 Mar 7;9:33. doi: 10.1186/1750-1172-9-33.
2
Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism.基于发病机制的治疗可逆转远端胆固醇代谢遗传性疾病的皮肤异常。
J Invest Dermatol. 2011 Nov;131(11):2242-8. doi: 10.1038/jid.2011.189. Epub 2011 Jul 14.
3
CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.
一种伴有胃肠道表现和局部皮肤受累的 CHILD 综合征新型 NSDHL 变异。
Mol Genet Genomic Med. 2022 Jan;10(1):e1848. doi: 10.1002/mgg3.1848. Epub 2021 Dec 26.
三代人中的 CHILD 综合征：轻度或微小皮肤病变的重要性。
Arch Dermatol. 2006 Mar;142(3):348-51. doi: 10.1001/archderm.142.3.348.
4
CHILD syndrome caused by a deletion of exons 6-8 of the NSDHL gene.由NSDHL基因外显子6 - 8缺失引起的儿童综合征。
Dermatology. 2005;211(2):155-8. doi: 10.1159/000086448.
5
Mutational spectrum of NSDHL in CHILD syndrome.儿童综合征中NSDHL的突变谱。
J Med Genet. 2005 Feb;42(2):e17. doi: 10.1136/jmg.2004.024448.
6
A novel missense mutation of NSDHL in an unusual case of CHILD syndrome showing bilateral, almost symmetric involvement.在一例表现为双侧几乎对称受累的罕见 CHILD 综合征病例中， NSDHL 基因发生了一种新的错义突变。
J Am Acad Dermatol. 2002 Apr;46(4):594-6. doi: 10.1067/mjd.2002.113680.
7
Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.编码3β-羟基类固醇脱氢酶的NSDHL基因突变会导致 CHILD 综合征。
Am J Med Genet. 2000 Feb 14;90(4):339-46.
8
Systematized inflammatory epidermal nevus with symmetrical involvement: an unusual case of CHILD syndrome?
J Am Acad Dermatol. 1997 May;36(5 Pt 2):823-6. doi: 10.1016/s0190-9622(97)70031-8.
9
The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects.儿童综合征。先天性半侧发育不良伴鱼鳞病样红皮病和肢体缺陷。
Eur J Pediatr. 1980 Jun;134(1):27-33. doi: 10.1007/BF00442399.
10
[Inflammatory variable epidermal naevus (atypical I.L.V.E.N.? A new entity?) (author's transl)].
Ann Dermatol Venereol. 1979 May;106(5):443-50.