Novel KRT14 mutation in a Taiwanese patient with epidermolysis bullosa simplex (Köbner type)

Sheau-Chiou Chao, Mei Hui Yang, Shu Fen Lee

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Epidermolysis bullosa simplex (EBS) is a group of hereditary bullous diseases characterized by intraepidermal blistering due to mechanical stress-induced degeneration of basal keratinocytes. Three major subtypes have been identified with autosomal dominant inheritance: the Weber-Cockayne type, the Köbner type (EBS-K), and the Dowling-Meara type. All three EBS subtypes are caused by mutations in either keratin 5 or keratin 14, the major keratins expressed in the basal layer of the epidermis. We describe a 25-year-old male with easy blistering after trauma over the whole body from the age of 4 to 5 years. According to the clinicopathologic findings, EBS-K was diagnosed. Mutational analysis revealed a novel keratin 14 mutation (1237G→A) that produces a conservative amino acid change (alanine to threonine) at position 413 (A413T) of the 2B helix.

Original languageEnglish
Pages (from-to)287-290
Number of pages4
JournalJournal of the Formosan Medical Association
Volume101
Issue number4
Publication statusPublished - 2002 Jul 10

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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