title: Familial juvenile systemic granulomatosis (Blau's syndrome).
abstract: Blau's syndrome refers to the rare familial presentation of a sarcoid-like granulomatous disease classically involving the skin, uveal tract and joints, in the absence of pulmonary manifestations. The onset is in childhood, and the mode of inheritance is thought to be autosomal dominant. We report a 15-year-old female and her 22-month-old daughter who presented with clinical features similar to those of Blau's syndrome. In addition to the skin, eye and joint disease, the mother also developed neurological involvement. In both patients long-term systemic corticosteroids were required to control the disease.
authors.affiliation: Department of Dermatology, St Mary's Hospital, Portsmouth, UK.
authors.forename: L
authors.initials: L
authors.lastname: Scerri
authors.forename: L J
authors.initials: LJ
authors.lastname: Cook
authors.forename: E A
authors.initials: EA
authors.lastname: Jenkins
authors.forename: A L
authors.initials: AL
authors.lastname: Thomas
mesh_terms: D000293:Adolescent; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D012871:Skin Diseases / Q000473:pathology; D013577:Syndrome; D013585:Synovitis / Q000473:pathology; D014605:Uveitis / Q000473:pathology