title: Systemic lupus erythematosus complicated with liver cirrhosis in a patient with Papillon-Lefèvre syndrome.
abstract: We report the first case of a girl who presented with Papillon-Lefèvre syndrome (PLS) and subsequently developed systemic lupus erythematosus and liver cirrhosis. This indicates that autoimmune diseases can be a complication in patients with PLS. Cathepsin C gene mutations were not found in our patient or her mother. Thus, other genetic factors may have been involved in this patient.
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan yasudo-tky@umin.ac.jp.
authors.forename: H
authors.initials: H
authors.lastname: Yasudo
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan Laboratory for Allergic Disease, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Ando
authors.affiliation: Kikkoman General Hospital, Chiba, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Takeuchi
authors.affiliation: Department of Dermatology, Hirosaki University Graduate School of Medicine, Aomori, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakano
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Itonaga
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Takehara
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Isojima
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Miura
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Harita
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: J
authors.initials: J
authors.lastname: Takita
authors.affiliation: Department of Pediatrics, Tokyo University Graduate School of Medicine, Tokyo, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Oka
mesh_terms: D002648:Child; D005260:Female; D019693:Hepatitis, Autoimmune / Q000150:complications; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology* / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000209:etiology*; D010214:Papillon-Lefevre Disease / Q000150:complications* / Q000235:genetics
keywords: Cirrhosis; Papillon-Lefèvre syndrome; systemic lupus erythematosus