KEGG   DISEASE: 毛母腫
エントリ  
H00947                                                             
名称    
毛母腫
概要    
Pilomatricoma is a benign cutaneous tumor of follicular structures. It occurs either in isolation or in conjunction with other symptoms such as myotonic dystrophy and Rubenstein-Taybi syndrome. The histologic appearance of the tumor is characterized by cells resembling those of the hair follicle matrix and sometimes show differentiation toward the follicular infundibulum and surrounding sheath.
カテゴリ  
新生物
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 02 腫瘍
  良性腫瘍, ただしリンパ, 造血, 中枢神経系または関連組織を除く
   良性非間葉系腫瘍
    皮膚の良性腫瘍
     2F22  表皮付属器の良性腫瘍
      H00947  毛母腫
パスウェイ 
hsa04390  Hippo signaling pathway
hsa04520  Adherens junction
hsa04919  Thyroid hormone signaling pathway
hsa04916  Melanogenesis
hsa04550  Signaling pathways regulating pluripotency of stem cells
hsa04510  Focal adhesion
hsa04310  Wnt signaling pathway
病因遺伝子 
CTNNB1 [HSA:1499] [KO:K02105]
リンク   
ICD-11: 2F22
ICD-10: D23
MeSH: D018296
OMIM: 132600
文献    
  著者
Tsao H.
  タイトル
Genetics of nonmelanoma skin cancer.
  雑誌
Arch Dermatol 137:1486-92 (2001)
DOI:10.1001/archderm.137.11.1486
文献    
  著者
Chan EF, Gat U, McNiff JM, Fuchs E
  タイトル
A common human skin tumour is caused by activating mutations in beta-catenin.
  雑誌
Nat Genet 21:410-3 (1999)
DOI:10.1038/7747
文献    
  著者
Lazar AJ, Calonje E, Grayson W, Dei Tos AP, Mihm MC Jr, Redston M, McKee PH
  タイトル
Pilomatrix carcinomas contain mutations in CTNNB1, the gene encoding beta-catenin.
  雑誌
J Cutan Pathol 32:148-57 (2005)
DOI:10.1111/j.0303-6987.2005.00267.x

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