Keratosis linearis with ichthyosis congenital and sclerosing keratoderma syndrome

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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[edit]

References[edit]

  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 2850438. PMID 20226437.