Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome

Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome
Classification and external resources
OMIM 601952

Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome (also known as "KLICK syndrome") is a cutaneous condition characterized by ichthyosis and keratoderma.[1][2]

It is associated with POMP.[3]

See also

References

  1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 778. ISBN 1-4160-2999-0.
  2. ↑ Pujol RM, Moreno A, Alomar A, de Moragas JM (January 1989). "Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma". Arch Dermatol. 125 (1): 103–6. doi:10.1001/archderm.125.1.103. PMID 2521286.
  3. ↑ Dahlqvist J, Klar J, Tiwari N, et al. (April 2010). "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. 86 (4): 596–603. doi:10.1016/j.ajhg.2010.02.018. PMC 2850438Freely accessible. PMID 20226437.


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