H00790 | |
H number | H00790 |
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 |
Network | - |
Gene | POMP [HSA:51371] [KO:K11599] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
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 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 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 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 |