KEGG   DISEASE: KLICK 症候群
エントリ  
H00790                                                             
名称    
KLICK 症候群
概要    
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) syndrome is a rare combination of congenital ichthyosis, sclerosing palmoplantar keratoderma with pseudoainhum, and bizarre linear hyperkeratotic papules on the flexural side of large joints. There is no associated systemic involvement. The disease is inherited as an autosomal-recessive trait.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 14 皮膚の疾患
  皮膚の遺伝性及び発達性疾患
   EC20  遺伝性角化症
    H00790  KLICK 症候群
パスウェイ 
hsa03050  Proteasome
病因遺伝子 
POMP [HSA:51371] [KO:K11599]
リンク   
ICD-11: EC20.0Y
MeSH: C566600
OMIM: 601952
文献    
PMID:9188877
  著者
Vahlquist A, Ponten F, Pettersson A
  タイトル
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?
  雑誌
Acta Derm Venereol 77:225-7 (1997)
DOI:10.2340/0001555577225227
文献    
  著者
Baeta IG, Pereira AC, Guedes AC, Pereira LB
  タイトル
Do you know this syndrome?
  雑誌
An Bras Dermatol 86:605-7 (2011)
DOI:10.1590/S0365-05962011000300036
文献    
  著者
Dahlqvist J, Klar J, Tiwari N, Schuster J, Torma H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N
  タイトル
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
  雑誌
Am J Hum Genet 86:596-603 (2010)
DOI:10.1016/j.ajhg.2010.02.018
文献    
  著者
Horev L, Murad S, Maly A, Zlotogorski A
  タイトル
Aggressive cutaneous squamous cell carcinoma in a patient with KLICK.
  雑誌
J Am Acad Dermatol 64:e128-30 (2011)
DOI:10.1016/j.jaad.2010.12.030
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