Keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) with Mutation in POMP
Last Updated: 2019-08-27
ICD11: -
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:
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.
Anamnesis
Clinic
Genetic investigation
Keratolysis.
Nourishing, moisturising external.
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.