Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5-Reference-Cited by-同舟云学术

Distinct phenotype of epidermolysis bullosa simplex with infantile migratory circinate erythema due to frameshift mutations in the V2 domain of KRT5

Published:2016-11-02 Issue:5 Volume:31 Page:e241-e243
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Kumagai Y.¹,Umegaki-Arao N.¹,Sasaki T.¹²,Nakamura Y.¹,Takahashi H.¹,Ashida A.³,Tsunemi Y.⁴,Kawashima M.⁴,Shimizu A.⁵,Ishiko A.⁵,Nakamura K.⁶,Tsuchihashi H.⁶,Amagai M.¹²,Kubo A.¹

Affiliation:

1. Department of Dermatology; Keio University School of Medicine; Tokyo Japan

2. KOSE Endowed Program for Skin Care and Allergy Prevention; Keio University School of Medicine; Tokyo Japan

3. Department of Dermatology; Shinshu University School of Medicine; Nagano Japan

4. Department of Dermatology; Tokyo Women's Medical University; Tokyo Japan

5. Department of Dermatology; School of Medicine; Faculty of Medicine; Toho University; Tokyo Japan

6. Department of Dermatology; Saitama Medical University; Saitama Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/jdv.14005/fullpdf

Reference10 articles.

1. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema;Gu;J Invest Dermatol,2003

2. T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients;Castiglia;Acta Derm Venereol,2014

3. Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation;Horiguchi;J Invest Dermatol,2005

4. Epidermolysis bullosa simplex with mottled pigmentation due to a rare keratin 5 mutation: cutaneous findings in infancy;Geller;Pediatr Dermatol,2013

5. One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex;Tang;Clin Exp Dermatol,2009

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1. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China;Journal of the European Academy of Dermatology and Venereology;2022-11-05

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

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

4. Anovel deletion mutation in the 2B domain of KRT5 in epidermolysis bullosa simplex with childhood-onset migratory circinate erythema;European Journal of Dermatology;2018-01-01