Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation

E. Mabuchi, N. Umegaki, H. Murota, T. Nakamura, K. Tamai, I. Katayama

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Non-Herlitz junctional epidermolysis bullosa (JEB-nH), a nonlethal variant of junctional epidermolysis bullosa (JEB), is an autosomal recessive disorder characterized by separation of the dermal-epidermal junction. JEB-nH is caused by mutations in several genes and lack of the COL17A1 gene product may lead to skin fragility. A 41-year-old Japanese man with JEB-nH, featuring mutations in the gene encoding type XVII collagen, presented with great blisters over his entire body accompanied by severe itching and eosinophilia usually observed in bullous pemphigoid (BP). To our knowledge, our patient is the first with JEB-nH to be treated successfully with an oral steroid to control his skin affliction, symptoms and eosinophilia. This suggests that in the case of JEB-nH with eosinophilia caused by some secondary immune activation, oral steroids may constitute an alternate therapy to improve aggravated skin conditions and severe itching, both of which tend to show resistance to usual dermatological treatments.

Original languageEnglish
Pages (from-to)596-598
Number of pages3
JournalBritish Journal of Dermatology
Volume157
Issue number3
DOIs
Publication statusPublished - 2007 Sep 1

Keywords

  • Bullous pemphigoid
  • Eosinophilia
  • Non-Herlitz junctional epidermolysis bullosa
  • Oral steroid

ASJC Scopus subject areas

  • Dermatology

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