康拉迪-许纳曼-哈普尔综合征（X连锁显性点状软骨发育不良）的早期皮肤活检 - Suppr

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Early Skin Biopsy in Conradi-Hünermann-Happle Syndrome (X-Linked Dominant Chondrodysplasia Punctata).

作者信息

O'Connor Cathal, Bussmann Neidín, Mhaolcatha Sarah Ni, Heffron Cynthia, O'Shea Sally

机构信息

Dermatology, South Infirmary Victoria University Hospital, Cork, Ireland.

Neonatology, Cork University Maternity Hospital, Cork, Ireland.

出版信息

J Cutan Pathol. 2025 Oct;52(10):597-600. doi: 10.1111/cup.14837. Epub 2025 Jul 9.

DOI:10.1111/cup.14837

PMID:40889793

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12401640/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/8816/12401640/cba34e7dd044/CUP-52-597-g002.jpg

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本文引用的文献

Conradi-Hünermann-Happle syndrome: Clinical and trichoscopic findings.

Pediatr Dermatol. 2023 Mar;40(2):333-336. doi: 10.1111/pde.15159. Epub 2022 Oct 20.

Epidermal Calcinosis: A New Pattern.

Am J Dermatopathol. 2018 Sep;40(9):704-706. doi: 10.1097/DAD.0000000000001031.

Dystrophic calcifications point the way-Unusual and early diagnostic clue of Conradi-Hünermann-Happle syndrome.营养不良性钙化指明方向——康拉迪-许纳曼-哈普勒综合征的不寻常且早期诊断线索。

JAAD Case Rep. 2018 Mar 31;4(4):333-336. doi: 10.1016/j.jdcr.2017.10.018. eCollection 2018 May.

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.康拉迪-许纳曼-哈普尔综合征中伴有钙化的角化性毛囊栓：组织学、生化及基因检测相关性

Br J Dermatol. 2015 Nov;173(5):1316-8. doi: 10.1111/bjd.13948. Epub 2015 Oct 5.

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

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

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.

Acta Derm Venereol. 2008;88(1):47-51. doi: 10.2340/00015555-0337.

Am J Dermatopathol. 2004 Feb;26(1):53-8. doi: 10.1097/00000372-200402000-00007.

Cutaneous histopathology of Conradi-Hunermann syndrome.

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Lyonization and the lines of Blaschko.莱昂化现象与布拉斯科线

Hum Genet. 1985;70(3):200-6. doi: 10.1007/BF00273442.

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