Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines.
作者信息
Dubois Anna, Fostier William, Sampson James, Durham Justin, Rajan Neil
机构信息
Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, U.K.
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, U.K.
出版信息
JAAD Case Rep. 2022 Aug 22;28:110-112. doi: 10.1016/j.jdcr.2022.08.020. eCollection 2022 Oct.
Abstract
摘要
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本文引用的文献
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Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
J Dermatol. 2021 Oct;48(10):1533-1541. doi: 10.1111/1346-8138.16044. Epub 2021 Jul 4.
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Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands.
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A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.
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A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.
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Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Hum Mutat. 2011 Jan;32(1):70-2. doi: 10.1002/humu.21384.
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Hypohidrotic ectodermal dysplasia with recurrent otitis and sebaceous gland hypertrophy of the face.
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Juxta-clavicular beaded lines: a subepidermal proliferation of sebaceous gland elements.
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