Anovel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema-Reference-Cited by-同舟云学术

Anovel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema

Published:2018-01-01 Issue:1 Volume:28 Page:123-125
ISSN:1952-4013
Container-title:European Journal of Dermatology
language:en
Short-container-title:Eur J Dermatol

Author:

Lee Sang Eun,Choi Ji Young,Kim Song-Ee,Kim Soo-Chan

Publisher

John Libbey Eurotext

Subject

Dermatology

Link

https://link.springer.com/content/pdf/10.1684/ejd.2017.3190.pdf

Reference7 articles.

1. Gu LH, Kim SC, Ichiki Y, Park J, Nagai M, Kitajima Y. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. J Invest Dermatol 2003; 121: 482–5.

2. Castiglia D, El Hachem M, Diociaiuti A, et al. T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients. Acta Derm Venereol 2014; 94: 307–311.

3. Kumagai Y, Umegaki-Arao N, Sasaki T, et al. Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5. J Eur Acad Dermatol Venereol 2017; 31: e241–3.

4. Goldsmith LA. Migrating skin lesions: a genetic clue. J Invest Dermatol 2003; 121: 1565.

5. Bolling MC, Lemmink HH, Jansen GH, Jonkman MF. Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol 2011; 164: 637–44.

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1. Epidermolysis Bullosa—A Different Genetic Approach in Correlation with Genetic Heterogeneity;Diagnostics;2022-05-27

2. A novel mutation of keratin 5 in epidermolysis bullosa simplex with migratory circinate erythema;Pediatric Dermatology;2020-03