Blau syndrome of granulomatous arthritis, iritis, and skin rash: A new family and review of the literature

American Journal of Medical Genetics

Volumn 76, Issue 3, 1998, Pages 217-221

  Manouvrier Hanu, S ^a   Puech, B ^a   Piette, F ^a   Boute Benejean, O ^a   Desbonnet, A ^a   Duquesnoy, B ^a   Farriaux, J P ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

Author keywords

Arthritis; Blau syndrome; Childhood sarcoidosis; Familial; Granulomatous; Uveitis

Indexed keywords

CORTICOSTEROID; MYDRIATIC AGENT;

ARTHRITIS; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLAU SYNDROME; CASE REPORT; CHILD; FAMILIAL DISEASE; FEMALE; GENETIC LINKAGE; HUMAN; IRITIS; MALE; ONSET AGE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PSORIATIC ARTHRITIS; RASH; SARCOIDOSIS; SYNDROME DELINEATION; TOPICAL DRUG ADMINISTRATION; UVEITIS;

ADOLESCENT; ADULT; ARTHRITIS; BLINDNESS; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 16; EXANTHEMA; FEMALE; FETAL GROWTH RETARDATION; GENOTYPE; GRANULOMA; HUMANS; INFANT; IRITIS; MALE; PEDIGREE; SARCOIDOSIS; SYNDROME; SYNOVITIS; TWINS, MONOZYGOTIC;

EID: 0032546250     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980319)76:3<217::AID-AJMG4>3.0.CO;2-N     Document Type: Article

References (13)

1. Blau EB (1985): Familial granulomatous arteritis, iritis and rash. J Pediatr 107:689-693.
2. De Chadaverian JP, Raphael SA, Murphy GF (1993): Histologic, ultrastructural, and immunocytochemical features of the granulomas seen in a child with the syndrome of familial granulomatous synovitis, uveitis and rash. Arch Pathol Lab Med 117:1050-1052.
3. Häfnerr R, Vogel P (1993): Sarcoidosis of early onset. A challenge for the pediatric rheumatologist. Clin Exp Rheumatol 11:685-691.
4. Jabs DA, Houk JL, Bias WB, Arnett FC (1985): Familial granulomatous synovitis, uveitis and cranial neuropathies. Am J Med 78:801-804.
5. Mau U, Baykal HE, Erb C, Thiel J, Muller C, Kaiser P, Zierhut M (1995): Blau syndrome (familial non HLA-B27-associated acute anterior uveitis with arthritis and skin manifestations): A rare syndrome in a family with 10 members over 4 generations. Med Genet 7:180.
6. Miller JJ (1986): Early-onset "sarcoidosis" and "familial granulomatous arthritis (arteritis)": The same disease.
7. Moraillon J, Hayem F, Bourrillon A, Morel P, Rybojab M (1996): Syndrome de Blau ou forme infantile de sarcoidose à début infantile. Ann Dermatol Venereol 123:29-30.
8. Pastores GM, Michels W, Stickler GB, Su D, Nelson AM, Bovenmyer DA (1990): Autosomal dominant granulomatous arthritis, uveitis, skin rash and synovial cysts. J Pediatr 117:403-408.
9. Raphael SA, Blau EB, Zhang WH, Hsu SH (1993): Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis. Am J Dis Child 147:842-848.
10. Rotenstein D, Gibbas DL, Majmudar B, Chastain EA (1982): Familial granulomatous arteritis with polyarthritis of juvenile onset. N Engl J Med 306:86-90.
11. Saini SK, Rose CD (1996): Liver involvement in familial granulomatous arthritis (Blau syndrome). J Rheumatol 23:396-399.
12. Tromp G, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiane A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S, Korn R, Madhatheri S, McCarron S, Pulkkinen L, Punnett H, Shimoya K, Spotila L, Tate A, Williams CJ (1994): Molecular characterization of Blau syndrome: Genetic linkage to chromosome 16. Am J Hum Genet [Suppl] 55:205.
13. Tromp G, Kuivaniemi H, Raphael S, Ala-Kokko L, Christiane A, Considine E, Dhulipala R, Hyland J, Jokinen A, Kivirikko S, Korn R, Madhatheri S, McCarron S, Pulkkinen L, Punnett H, Shimoya K, Spotila L, Tate A, Williams CJ (1996): Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16. Am J Hum Genet 59:1097-1107.