| Entry |
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| Name |
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma;
KLICK syndrome |
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| 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.
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| Category |
Congenital malformation
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Genetic or developmental disorders affecting the skin
EC20 Genetic disorders of keratinisation
H00790 Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
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| Pathway |
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| Gene |
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| Other DBs |
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| Reference |
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| Authors |
Vahlquist A, Ponten F, Pettersson A |
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| Title |
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK-syndrome): a rare, autosomal recessive disorder of keratohyaline formation? |
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| Journal |
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| Reference |
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| Authors |
Baeta IG, Pereira AC, Guedes AC, Pereira LB |
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| Title |
Do you know this syndrome? |
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| Journal |
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| Reference |
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| 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 |
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| Title |
A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. |
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| Journal |
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| Reference |
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| Authors |
Horev L, Murad S, Maly A, Zlotogorski A |
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| Title |
Aggressive cutaneous squamous cell carcinoma in a patient with KLICK. |
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| Journal |
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