无半侧发育异常的先天性半侧发育不良伴鱼鳞病样痣和肢体缺陷（CHILD）综合征 - Suppr

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超能文献

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/edc3dc34df9c/BJD-173-304-g001.jpg

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本文引用的文献

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.

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.

CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions.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.

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.

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.

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.

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.

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.

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.

[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.

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