Epidermolysis Bullosa Simplex with Mottled Pigmentation Due to a Rare Keratin 5 Mutation: Cutaneous Findings in Infancy
Author:
Affiliation:
1. Department of Dermatology; Columbia University; New York; New York
2. Department of Dermatology; State University of New York at Stony Brook; Stony Brook; New York
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/pde.12206/fullpdf
Reference5 articles.
1. The classification of inherited epidermolysis bullosa (EB): report of the Third International Consensus Meeting on Diagnosis and Classification of EB;Fine;J Am Acad Dermatol,2008
2. Epidermolysis bullosa simplex with mottled pigmentation: a family report and review;Echeverría-García;Pediatr Dermatol,2012
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. One novel and two recurrent mutations in the keratin 5 gene identified in Chinese patients with epidermolysis bullosa simplex;Tang;Clin Exp Dermatol,2009
5. 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
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