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Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity.

作者信息

Gutiérrez-Cerrajero Carlos, Gestoso-Uzal Nerea, Ortiz-Cabrera Nelmar Valentina, González-Sarmiento Rogelio, Hernández-Martín Ángela

机构信息

Department of Medicine, Faculty of Medicine, University of Salamanca, Salamanca, Spain; Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain.

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

出版信息

Acta Derm Venereol. 2025 May 27;105:adv43168. doi: 10.2340/actadv.v105.43168.

DOI:10.2340/actadv.v105.43168
PMID:40423580
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12128627/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60bc/12128627/80fc6f749afc/ActaDV-105-43168-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60bc/12128627/fd471734577c/ActaDV-105-43168-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60bc/12128627/80fc6f749afc/ActaDV-105-43168-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60bc/12128627/fd471734577c/ActaDV-105-43168-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/60bc/12128627/80fc6f749afc/ActaDV-105-43168-g002.jpg

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Keratoderma-hypotrichosis-leukonychia Totalis Syndrome: A New Case Report of an Exceptional Entity.掌跖角化-少毛-全白甲综合征：一种罕见病症的新病例报告
Acta Derm Venereol. 2025 May 27;105:adv43168. doi: 10.2340/actadv.v105.43168.
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Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?掌跖角化症、毛发稀少和全白甲：一种新综合征？
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本文引用的文献

1
Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy.掌跖表皮分化障碍：基于发病机制治疗的新分类
Br J Dermatol. 2025 Aug 18;193(3):364-380. doi: 10.1093/bjd/ljaf054.
2
Erythrokeratodermia variabilis et progressiva.进行性变异性红角皮病
J Dermatol. 2016 Mar;43(3):280-5. doi: 10.1111/1346-8138.13220.
3
Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia.GJA1基因的显性新生突变导致进行性可变红斑角化病，无眼牙指发育不良特征。
J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
4
Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome.外显子组测序揭示GJA1基因突变是掌跖角化-少毛-全白甲综合征的病因。
Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28.
5
Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?掌跖角化症、毛发稀少和全白甲：一种新综合征？
Br J Dermatol. 1995 Oct;133(4):636-8. doi: 10.1111/j.1365-2133.1995.tb02720.x.