角质化包膜蛋白基因新变异导致的常染色体隐性先天性鱼鳞病：病例报告 - Suppr

Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report.

作者信息

Almalki Basel, Alghamdi Yara, Aman Abdullah, Alamri Samer, Alshareef Alhussain, Alraddadi Ali

机构信息

Dermatology Department, King Fahad General Hospital, Jeddah, Saudi Arabia.

Department of Dermatology, King Abdullah Medical Complex, Jeddah, Saudi Arabia.

出版信息

JAAD Case Rep. 2024 Jul 23;52:25-27. doi: 10.1016/j.jdcr.2024.07.004. eCollection 2024 Oct.

DOI:10.1016/j.jdcr.2024.07.004

PMID:39282523

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11401099/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4c09/11401099/687854286363/gr1.jpg

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本文引用的文献

Genetics of Inherited Ichthyoses and Related Diseases.

Acta Derm Venereol. 2020 Mar 25;100(7):adv00096. doi: 10.2340/00015555-3432.

The Differentiation-Associated Keratinocyte Protein Cornifelin Contributes to Cell-Cell Adhesion of Epidermal and Mucosal Keratinocytes.

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Cyclic Alopecia and Abnormal Epidermal Cornification in Zdhhc13-Deficient Mice Reveal the Importance of Palmitoylation in Hair and Skin Differentiation.

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Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020.

Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.

Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952.

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis.

Nat Genet. 2006 Apr;38(4):441-6. doi: 10.1038/ng1767. Epub 2006 Mar 19.

Identification and characterization of a novel component of the cornified envelope, cornifelin.

Biochem Biophys Res Commun. 2004 Jun 11;318(4):803-13. doi: 10.1016/j.bbrc.2004.04.109.

Bricks and mortar of the epidermal barrier.

Exp Mol Med. 1999 Mar 31;31(1):5-19. doi: 10.1038/emm.1999.2.

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Autosomal recessive congenital ichthyosis caused by a novel variant in cornifelin gene: A case report.

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