Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) with Mutation in POMP

Last Updated: 2019-08-27

Author(s): Anzengruber F., Navarini A.

ICD11: -

Pujol et al 1989

Bahlquist et al. 1997

KLICK – Syndrome

Palmoplantar keratosis 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 trangrediente palmoplantar keratosis, which occurs not only on the palmoplantar but also on the back of the hand and foot.

Typical are the linear hyperkeratoses.

Generalized ichthyosis.



Genetic investigation 

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.