title: Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.
abstract: Blau syndrome (MK186580) comprises granulomatous arthritis, iritis, and skin rash, and is an autosomal-dominant trait with variable expressivity. So far it was described in 5 families. We report on a sixth family with severe progression of eye involvement and discuss the nosology with similar diseases, such as early-infantile sarcoidosis.
authors.affiliation: Consultation de Génétique Médicale, Hôpital Jeanne de Flandre, CHRU, Lille, France.
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: B
authors.initials: B
authors.lastname: Puech
authors.forename: F
authors.initials: F
authors.lastname: Piette
authors.forename: O
authors.initials: O
authors.lastname: Boute-Benejean
authors.forename: A
authors.initials: A
authors.lastname: Desbonnet
authors.forename: B
authors.initials: B
authors.lastname: Duquesnoy
authors.forename: J P
authors.initials: JP
authors.lastname: Farriaux
mesh_terms: D000293:Adolescent; D000328:Adult; D001168:Arthritis / Q000235:genetics / Q000473:pathology*; D001766:Blindness / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16; D005076:Exanthema / Q000235:genetics / Q000473:pathology*; D005260:Female; D005317:Fetal Growth Retardation; D005838:Genotype; D006099:Granuloma / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007223:Infant; D007500:Iritis / Q000235:genetics / Q000473:pathology*; D008297:Male; D010375:Pedigree; D012507:Sarcoidosis / Q000473:pathology; D013577:Syndrome; D013585:Synovitis / Q000235:genetics / Q000473:pathology; D014430:Twins, Monozygotic