KEGG   DISEASE: 長睫毛症
エントリ  
H01905                                                             
名称    
長睫毛症
概要    
Eyelash trichomegaly is defined as eyelashes which are found to be of increased length, thickness, and pigmentation. It can be present at birth as part of variety congenital syndromes or as a benign familial trait. Congenital syndromes that include eyelash trichomegaly as a defining diagnostic feature, are Oliver-McFarlane syndrome [DS:H01898] and Cornelia de Lange syndrome [DS:H00631]. It has been identified that mutations in FGF5 underlie the trichomegaly. There are also acquired conditions and drugs that are known to cause eyelash trichomegaly. For example, acquired conditions, such as allergic rhinitis, atopic dermatitis, HIV infection, and certain eye diseases, have commonly been reported to be associated with increased length of the eyelashes.
カテゴリ  
皮膚疾患
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  多発性の発達異常または症候群
   LD27  主な特徴として皮膚または粘膜の異常を伴う症候群
    H01905  長睫毛症
パスウェイ 
hsa04020  Calcium signaling pathway
hsa04010  MAPK signaling pathway
病因遺伝子 
FGF5 [HSA:2250] [KO:K04358]
コメント  
See also H01898 PNPLA6-related disorders and H00631 Cornelia de Lange syndrome.
リンク   
ICD-11: LD27.0Y
OMIM: 190330
文献    
  著者
Paul LJ, Cohen PR, Kurzrock R
  タイトル
Eyelash trichomegaly: review of congenital, acquired, and drug-associated etiologies for elongation of the eyelashes.
  雑誌
Int J Dermatol 51:631-46; quiz 643-4, 646 (2012)
DOI:10.1111/j.1365-4632.2011.05315.x
文献    
  著者
Higgins CA, Petukhova L, Harel S, Ho YY, Drill E, Shapiro L, Wajid M, Christiano AM
  タイトル
FGF5 is a crucial regulator of hair length in humans.
  雑誌
Proc Natl Acad Sci U S A 111:10648-53 (2014)
DOI:10.1073/pnas.1402862111
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