Keratosis linearis Ichthyosis congenita Keratoderma with mutation in POMP

Last Updated: 2023-07-07

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

ICD11: EC20.0Y

Entity described by

Pujol et al 1989

Bahlquist et al 1997

Synonym (s)

CLICK – Syndrome

Definition

Palmoplantar keratosis, which is caused by a mutation in the POMP gene.

Etiopathogenesis

Autosomal – recessive mutation in the POMP gene.

Clinical features

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.

Generalised ichthyosis.

Diagnosis

Anamnesis

Clinical

Genetic examination

Therapy

Keratolysis.

Nourishing, refatting externals.

References

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.