KEGG   DISEASE: Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Entry
H00790                      Disease                                
Name
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma;
KLICK syndrome
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC20  Genetic disorders of keratinisation
    H00790  Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
Pathway
hsa03050  Proteasome
Gene
POMP [HSA:51371] [KO:K11599]
Other DBs
ICD-11: EC20.0Y
ICD-10: Q82.8
MeSH: C566600
OMIM: 601952
Reference
PMID:9188877
  Authors
Vahlquist A, Ponten F, Pettersson A
  Title
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation?
  Journal
Acta Derm Venereol 77:225-7 (1997)
DOI:10.2340/0001555577225227
Reference
PMID:21738991
  Authors
Baeta IG, Pereira AC, Guedes AC, Pereira LB
  Title
Do you know this syndrome?
  Journal
An Bras Dermatol 86:605-7 (2011)
DOI:10.1590/S0365-05962011000300036
Reference
PMID:20226437
  Authors
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
  Title
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis.
  Journal
Am J Hum Genet 86:596-603 (2010)
DOI:10.1016/j.ajhg.2010.02.018
Reference
PMID:21571163
  Authors
Horev L, Murad S, Maly A, Zlotogorski A
  Title
Aggressive cutaneous squamous cell carcinoma in a patient with KLICK.
  Journal
J Am Acad Dermatol 64:e128-30 (2011)
DOI:10.1016/j.jaad.2010.12.030

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Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (4)   
   PubMed (4)   
All databases (7)   

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