Síndrome de Kabuki y Artritis Reumatoidea. A propósito de un caso
Keywords:
Kabuki syndrome, Rheumatoid Arthritis,autoimmunity
Abstract
Kabuki syndrome (KS) is a congenital disorder. It was first described in 1981 by Niikawa and Kuroki in Japan and nearly 400 cases have been published worldwide. People with this syndrome present peculiar facial features, musculoskeletal alterations, mental retardation, congenital heart disease, kidney disease, dermatoglyphics alteration and short stature. Although the association between KS and autoimmune diseases is documented, recent evidence has not demonstrated to date its association with rheumatoid arthritis (RA). We present the description of the case of an 18-year-old patient with KS who consulted the Children's Rheumatology Service of the Pedro de Elizalde Children's Hospital due to pain in the left ankle of 10 months' duration. The patient was diagnosed with RAReferences
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6. Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Autoimmune disorders in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332. PMID: 15523604.
2. Matsumoto N, Niikawa N. Kabuki make-up syndrome: a review. Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):57-65. doi: 10.1002/ajmg.c.10020. PMID: 12561059.
3. Hoffman JD, Ciprero KL, Sullivan KE, Kaplan PB, McDonald-McGinn DM, Zackai EH, Ming JE. Immune abnormalities are a frequent manifestation of Kabuki syndrome. Am J Med Genet A. 2005 Jun 15;135(3):278-81. doi: 10.1002/ajmg.a.30722. PMID: 15887282.
4. Consolaro A, Ruperto N, Bazso A, Pistorio A, Magni-Manzoni S, Filocamo G, Malattia C, Viola S, Martini A, Ravelli A; Paediatric Rheumatology International Trials Organisation. Development and validation of a composite disease activity score for juvenile idiopathic arthritis. Arthritis Rheum. 2009 May 15;61(5):658-66. doi: 10.1002/art.24516. PMID: 19405003.
5. Kay J, Upchurch KS. ACR/EULAR 2010 rheumatoid arthritis classification criteria. Rheumatology (Oxford). 2012 Dec;51 Suppl 6:vi5-9. doi: 10.1093/rheumatology/kes279. PMID: 23221588.
6. Ming JE, Russell KL, McDonald-McGinn DM, Zackai EH. Autoimmune disorders in Kabuki syndrome. Am J Med Genet A. 2005 Jan 30;132A(3):260-2. doi: 10.1002/ajmg.a.30332. PMID: 15523604.
Published
2024-08-07
How to Cite
1.
Hernandez R. Síndrome de Kabuki y Artritis Reumatoidea. A propósito de un caso. Rev. Argent. Reumatol. [Internet]. 2024Aug.7 [cited 2024Sep.16];35(2). Available from: https://ojs.reumatologia.org.ar/index.php/revistaSAR/article/view/798
Section
Clinical Case
