A Novel Missense Mutation in the ABCA12 Gene in Japanese Siblings with Congenital Ichthyosis Erythroderma
Author:
Affiliation:
1. Department of Dermatology, Kochi Medical School, Kochi University
2. Department of Dermatology, Graduate School of Medicine, Nagoya University
Publisher
Western Japan Division of JDA
Subject
Dermatology
Link
https://www.jstage.jst.go.jp/article/nishinihonhifu/81/5/81_382/_pdf
Reference10 articles.
1. 1) Oji V, Tadini G, Akiyama M et al : Revised nomenclature and classification of inherited ichthyoses. J Am Acad Dermatol, 2010 ; 63 : 607-641.
2. 2) Griffiths WAD : Pityriasis rubra pilaris. Clin Exp Dermatol, 1980 ; 5 : 105-112.
3. 3) Miralles ES, Nunez M, De Las Heras ME et al : Pityrasis rubra pilaris and human immunodeficiency virus infection. Br J Dermatol, 1995 ; 133 : 990-993.
4. 5) Walsh NMG, Prokopetz R, Tron VA et al : Histopathology in erythrodema : review of aseries of cases by multiple observers. J Cutan Pathol, 1994 ; 21 : 419-423.
5. 7) Takeichi T, Suqiura K, Nomura T et al : Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations. JAMA Dermatol, 2017 ; 66 : 153.
Cited by 2 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options;American Journal of Clinical Dermatology;2023-12-30
2. Patients with keratinization disorders due to ABCA12 variants showing pityriasis rubra pilaris phenotypes;The Journal of Dermatology;2023-09-27
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