Blau syndrome: a new kindred.
Blau syndrome is a rare condition typically defined by granulomatous arthritis, skin eruption, and uveitis occurring in the absence of lung or other visceral involvement. Other characteristic physical findings include synovial cysts and camptodactyly. We describe a new kindred demonstrating autosomal dominant inheritance and anticipation.
Alonso
Delilah
D
Department of Dermatology and Cutaneous Surgery University of Miami School of Medicine, Miami, FL 33136, USA.
Elgart
George W
GW
Schachner
Lawrence A
LA
D000293:Adolescent; D000328:Adult; D005260:Female; D006099:Granuloma / Q000235:genetics* / Q000473:pathology; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D013581:Synovial Cyst / Q000235:genetics* / Q000473:pathology; D014605:Uveitis / Q000235:genetics* / Q000473:pathology
D015796:HLA-B27 Antigen