Keratosis linearis Ichthyosis congenita Keratoderma with mutation in POMP
Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
Pujol et al 1989
Bahlquist et al 1997
CLICK – Syndrome
Palmoplantar keratosis, which is caused by a mutation in the POMP gene.
Autosomal – recessive mutation in the POMP gene.
The synonym KLICK– syndrome stands for:
- Keratoisis linearis with ichthyosis congenita and sclerosing kerotoderma.
It is a trangredient palmoplantar keratosis, which means that it occurs not only palmoplantar, but also on the dorsum of the hands and feet.
Typical are the linear hypercaeratoses.
Dahlqvist J, Klar J, Tiwari N, Schuster J, Törmä H, Badhai J, Pujol R, van Steensel MA, Brinkhuizen T, Gijezen L, Chaves A, Tadini G, Vahlquist A, Dahl N. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet. 2010 Apr 9;86(4):596-603.