title: Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.
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.
authors.affiliation: Department of Dermatology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita-city, 565-0871 Osaka, Japan.
authors.forename: E
authors.initials: E
authors.lastname: Mabuchi
authors.forename: N
authors.initials: N
authors.lastname: Umegaki
authors.forename: H
authors.initials: H
authors.lastname: Murota
authors.forename: T
authors.initials: T
authors.lastname: Nakamura
authors.forename: K
authors.initials: K
authors.lastname: Tamai
authors.forename: I
authors.initials: I
authors.lastname: Katayama
mesh_terms: D000284:Administration, Oral; D000328:Adult; D000893:Anti-Inflammatory Agents / Q000008:administration & dosage*; D001324:Autoantigens / Q000235:genetics*; D003241:Consanguinity; D004252:DNA Mutational Analysis; D004802:Eosinophilia / Q000188:drug therapy* / Q000473:pathology; D004820:Epidermolysis Bullosa / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D024041:Non-Fibrillar Collagens / Q000235:genetics*; D011239:Prednisolone / Q000008:administration & dosage / Q000031:analogs & derivatives*; D016896:Treatment Outcome; D000097805:Collagen Type XVII
chemical_list: D000893:Anti-Inflammatory Agents; D001324:Autoantigens; D024041:Non-Fibrillar Collagens; D011239:Prednisolone; D000097805:Collagen Type XVII; C021322:prednisolone hemisuccinate