KEGG   DISEASE: Stiff skin syndrome
エントリ  
H01173                                                             
名称    
Stiff skin syndrome
概要    
Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant fascia on the thighs and buttocks. SSS is caused by mutations in the Arg-Gly-Asp (RGD) sequence-encoding domain of fibrillin-1 that mediates integrin binding.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  特定の皮膚構造が関与する皮膚疾患
   真皮及び皮下組織の疾患
    皮膚結合組織の疾患
     線維腫症及びケロイド
      EE6Y  その他の明示された皮膚及び軟部組織の線維腫疾患
       H01173  Stiff skin syndrome
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06539  筋細胞の細胞骨格
   H01173  Stiff skin syndrome
パスウェイ 
hsa04820  Cytoskeleton in muscle cells
hsa04350  TGF-beta signaling pathway
ネットワーク
nt06539 Cytoskeleton in muscle cells
病因遺伝子 
FBN1 [HSA:2200] [KO:K06825]
リンク   
ICD-11: EE6Y
MeSH: C566112
OMIM: 184900
文献    
PMID:18936399
  著者
Liu T, McCalmont TH, Frieden IJ, Williams ML, Connolly MK, Gilliam AE
  タイトル
The stiff skin syndrome: case series, differential diagnosis of the stiff skin phenotype, and review of the literature.
  雑誌
Arch Dermatol 144:1351-9 (2008)
DOI:10.1001/archderm.144.10.1351
文献    
PMID:16836505
  著者
Geng S, Lei X, Toyohara JP, Zhan P, Wang J, Tan S
  タイトル
Stiff skin syndrome.
  雑誌
J Eur Acad Dermatol Venereol 20:729-32 (2006)
DOI:10.1111/j.1468-3083.2006.01619.x
文献    
PMID:20375004
  著者
Loeys BL, Gerber EE, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri CR, Macaya D, Coucke PJ, De Paepe A, Judge DP, Wigley F, Davis EC, Mardon HJ, Handford P, Keene DR, Sakai LY, Dietz HC
  タイトル
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
  雑誌
Sci Transl Med 2:23ra20 (2010)
DOI:10.1126/scitranslmed.3000488
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