A case of cryopyrin associated periodic syndromes

( views:540, downloads:0 )
Author:
QIU Min-lei(Department of Dermatology,Changhai Hospital Second Military Medical University,Shanghai 200433,China)
LI Hui(Department of Dermatology,Changhai Hospital Second Military Medical University,Shanghai 200433,China)
GU Jun(Department of Dermatology,Changhai Hospital Second Military Medical University,Shanghai 200433,China)
Journal Title:
INTERNATIONAL JOURNAL OF DERMATOLOGY AND VENEREOLOGY
Issue:
Volume 35, Issue 02, 2009
DOI:
10.3760/cma.j.issn.1673-4173.2009.02.002
Key Word:
Cryopyin-associated periodic syndromes;Case reports

Abstract: A 29-year-old woman was referred to the hospiml due to recurrent generalized erytherna on the face and trunk for 26 years and ioint deformity in the hands and feet for 14 years.The nonpmfitic rash occurred every day with low-grade fever,chill,eye redness and arthralgia.Physical examination revealed growth retardation.characteristic facial appearance with a saddle back nose and frontal bossing,conjunctival congestion of both eyes,diflused erythema on the face and trunk and joint deformity.ARer her face was exposed to artificial cold wind,the rash worsened and turned into typical wheals.According to the typical clinical manifestation.this case was diagnosed as cryopyrin associated periodic syndromes.

  • [1]http://www.capscommunity.com/caps_fact_caps_pat.html.
  • [2]Shinkai K,McCalm ount TH,Leslie KS.Cryopyrin-associated periodic syndromes and autoinflammation.Clin Exp Dermatol,2008,33(1):1-9.
  • [3]Hoffman HM,Wandcrcr AA,Broide DH.Farnilial cold autoinflammatory syndrome:Phenotype and genotype of an autosomal dominant periodic fever.J Allergy Clin Immunol,2001,108(4):615-620.
  • [4]Koike R,Kubota T,Hara Y,et al.A case of Muckle-Wells syndrome causcd by a novel H312P mutation in NALP3 (cryopyrin).Mod Rheumatol,2007,17(6):496-499.
  • [5]Gunduz Z,Dursun I,Aróstegui JI,et al.A fatal turkish case of CINCA-NOMID syndrome due to the novel Val-351-Leu CLAS1gene mutation.Rheumatol Int,2008,28(4):379-383.
  • [6]Jesus AA,Silva CA,Sequndo GR,et al.Phenotypc-gcnotype analysis of cryopyrin-associated periodic syndromes (CAPS):description of a rare non-exon 3 and a novel CIAS1 missense mutation.J Clin Immunol,2008,28(2):134-138.
WanfangData CO.,Ltd All Rights Reserved
About WanfangData | Contact US
Healthcare Department, Fuxing Road NO.15, Haidian District Beijing, 100038 P.R.China
Tel:+86-010-58882616 Fax:+86-010-58882615 Email:yiyao@wanfangdata.com.cn