Two pediatric cases of Blau syndrome

Dermatology Online Journal

Volumn 15, Issue 12, 2009, Pages

  Glass II, Donald A ^a   Maender, Jennifer ^a   Metry, Denise ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ATROPINE; CORTICOSTEROID DERIVATIVE; ETANERCEPT; FLUOROMETHOLONE; METHOTREXATE; METHYLPREDNISOLONE; NAPROXEN; PREDNISONE; STEROID;

ANAMNESIS; ARTICLE; BLAU SYNDROME; CASE REPORT; CHILD; CLINICAL FEATURE; DRUG TREATMENT FAILURE; ECZEMA; GENE MUTATION; HUMAN; HUMAN TISSUE; JUVENILE RHEUMATOID ARTHRITIS; LABORATORY TEST; MALE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SCHOOL CHILD; SKIN BIOPSY; ARTHRITIS; GRANULOMA; IRITIS; PATHOLOGY; PHENOTYPE; SKIN DISEASE; SYNDROME;

ARTHRITIS; CHILD; CHILD, PRESCHOOL; GRANULOMA; HUMANS; IRITIS; MALE; PHENOTYPE; SKIN DISEASES; SYNDROME;

EID: 74049104543     PISSN: None     EISSN: 10872108     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. Blau EB. Familial granulomatous arthritis, iritis and rash. J. Pediat. 1985;107:689-693. [PubMed]
2. Jabs DA et al. Familial granulomatous synovitis, uveitis, and cranial neuropathies. Am. J. Med. 1985;78:801-804. [PubMed]
3. Pastores GM et al. Autosomal dominant granulomatous arthritis, uveitis, skin rash and synovial cysts. J. Pediat. 1990;117:403-408. [PubMed]
4. Pattishell EN et al. Childhood Sarcoidosis. Pediatrics 1986;108:169-177. [PubMed]
5. Saini SK and Rose CD. Liver involvement in familial granulomatous arthritis (Blau syndrome). J. Rheum.1996;23:396-399. [PubMed]
6. Ting SS et al. Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions. J Pediatr. 1998;133:450-452. [PubMed]
7. Masel G and Halbert A. Blau syndrome presenting with ichthyosis. Australas J Dermatol. 2005;46:29-32. [PubMed]
8. Emaminia A, et al. Central nervous system involvement in Blau syndrome: a new feature of the syndrome? J Rheumatol. 2007;34:2504-2505. [PubMed]
9. Dhondt V, et al. Leg ulcers: a new symptom of Blau syndrome? Eur J Dermatol. 2008;35:943.
10. Rodriguez GE et al. Serum angiotensin-converting enzyme activity in normal children and in those with sarcoidosis. J Pediatr. 1981;99:68-72. [PubMed]
11. Miceli-Richard et al. CARD15 mutations in Blau syndrome. Nature Genet. 2001;29:19-20. [PubMed]
12. Kanazawa N et al. Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation. J. Invest. Derm. 2004;122:851-852. [PubMed]
13. Rose CD et al. Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. J Rheumatol. 2005;32:373-375. [PubMed]
14. Priori R et al. Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up. Sarcoidosis Vasc Diffuse Lung Dis. 2004;21:228-231. [PubMed]
15. Schurmann M et al. CARD15 gene mutations in sarcoidosis. Eur Respir J. 2003;22:748-754. [PubMed]
16. Martin TM et al. Uveitis in patients with sarcoidosis is not associated with mutations in NOD2 (CARD15). Am J Ophthalmol. 2003;136:933-935. [PubMed]
17. Hugot JP et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411:599-603. [PubMed]
18. Ogura Y et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001;411:603-606. [PubMed]
19. Latkany PA et al. Multifocal choroiditis in patients with familial juvenile systemic granulomatosis. Am J Ophthalmol. 2002;134:897-904. [PubMed]
20. Cuesta IA et al. Blau Syndrome (Familial granulomatous arthritis, iritis, and rash) in an African-American family. J Clin Rheumatol. 2000; 6:30-34. [PubMed]
21. de Oliveira SK et al. Indications and adverse events with the use of anti-TNF alpha agents in pediatric rheumatology: experience of a single center. Acta Reumatol Port. 2007;32(2):139-50. [PubMed]
22. Milman N et al. Favourable effect of TNF-alpha inhibitor (infliximab) on Blau syndrome in monozygotic twins with a de novo CARD15 mutation. APMIS. 2006;114(12):912-9. [PubMed]