羊毛状头发：卡瓦哈尔综合征的关键线索。 - Suppr

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Woolly Hair: Essential Clue in Carvajal Syndrome.

作者信息

García-Piqueras Paloma, Manzano-Pablos Rosa María, Camino-López Manuela, Campos-Dominguez Minia

机构信息

Department of Dermatology, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

Department of Dermatology, Hospital General La Mancha Centro, Ciudad Real, Spain.

出版信息

Int J Trichology. 2024 Jan-Dec;16(1-6):67-68. doi: 10.4103/ijt.ijt_97_21. Epub 2025 Apr 18.

DOI:10.4103/ijt.ijt_97_21

PMID:40309372

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12039783/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1d7f/12039783/edd3a0b5866a/IJT-16-67-g001.jpg

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本文引用的文献

Hair and skin predict cardiomyopathies: Carvajal and erythrokeratodermia cardiomyopathy syndromes.毛发和皮肤表现可预测心肌病：卡瓦哈尔综合征和红皮病性心肌病综合征。

Pediatr Dermatol. 2021 Jan;38(1):31-38. doi: 10.1111/pde.14478. Epub 2020 Dec 4.

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities.编码桥粒蛋白的基因突变：皮肤和皮肤外异常谱

Br J Dermatol. 2021 Apr;184(4):596-605. doi: 10.1111/bjd.19342. Epub 2020 Aug 2.

Naxos disease: cardiocutaneous syndrome due to cell adhesion defect.纳克索斯病：一种因细胞黏附缺陷导致的心脏皮肤综合征。

Orphanet J Rare Dis. 2006 Mar 13;1:4. doi: 10.1186/1750-1172-1-4.

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.桥粒斑蛋白的隐性突变破坏桥粒斑蛋白与中间丝的相互作用，并导致扩张型心肌病、羊毛状头发和角皮病。

Hum Mol Genet. 2000 Nov 1;9(18):2761-6. doi: 10.1093/hmg/9.18.2761.

Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.伴有羊毛状毛发和扩张型心肌病的表皮松解性掌跖角化病。

J Am Acad Dermatol. 1998 Sep;39(3):418-21. doi: 10.1016/s0190-9622(98)70317-2.

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