一名患有X连锁显性点状软骨发育不良且携带新型依莫帕米结合蛋白突变的成年女性患者的脓疱性皮肤病变：一种罕见的皮肤表现 - Suppr

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Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.

作者信息

Hasegawa Akito, Shinkuma Satoru, Hayashi Ryota, Shimomura Yutaka, Abe Riichiro

机构信息

Department of Dermatology, Niigata University Graduate School of Medical and Dental Sciences, 951-8510 Niigata, Japan.

出版信息

Acta Derm Venereol. 2021 Sep 15;101(9):adv00547. doi: 10.2340/00015555-3916.

DOI:10.2340/00015555-3916

PMID:34490468

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9425570/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a2b/9425570/e6384661368d/ActaDV-101-9-237-g001.jpg

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Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation.一名患有X连锁显性点状软骨发育不良且携带新型依莫帕米结合蛋白突变的成年女性患者的脓疱性皮肤病变：一种罕见的皮肤表现

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本文引用的文献

Sterol profiles are valuable biomarkers for phenotype expression of Conradi-Hünermann-Happle syndrome with EBP mutations.甾醇谱是伴有EBP突变的康拉迪-许纳曼-哈珀综合征表型表达的重要生物标志物。

Br J Dermatol. 2018 Nov;179(5):1186-1188. doi: 10.1111/bjd.16823. Epub 2018 Aug 6.

Severe X-linked chondrodysplasia punctata in nine new female fetuses.9例新发现的女性胎儿中的严重X连锁点状软骨发育不良

Prenat Diagn. 2015 Jul;35(7):675-84. doi: 10.1002/pd.4591. Epub 2015 Mar 30.

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.九家西班牙康-希二氏综合征家系的临床、分子和生化特征：X 连锁显性点状软骨发育不良的新见解，并对文献进行全面回顾。

Br J Dermatol. 2012 Apr;166(4):830-8. doi: 10.1111/j.1365-2133.2011.10756.x. Epub 2012 Mar 2.

Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata.一例X连锁显性点状软骨发育不良的分子产前诊断

Prenat Diagn. 2003 Sep;23(9):701-4. doi: 10.1002/pd.667.

Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome).

Genet Med. 2002 Nov-Dec;4(6):434-8. doi: 10.1097/00125817-200211000-00006.

X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male.男性单基因嵌合体导致的X连锁显性点状软骨发育不良（CDPX2）

Am J Med Genet A. 2003 Jan 30;116A(3):255-60. doi: 10.1002/ajmg.a.10852.

Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.

J Invest Dermatol. 2002 May;118(5):851-8. doi: 10.1046/j.1523-1747.2002.01761.x.

Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome.编码3β-羟基类固醇-δ8，δ7-异构酶的基因突变会导致X连锁显性康拉迪-于纳曼综合征。

Nat Genet. 1999 Jul;22(3):291-4. doi: 10.1038/10357.

Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata.一名患有X连锁显性点状软骨发育不良的女性沿Blaschko线出现鱼鳞病样和银屑病样皮肤病变。

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