Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
This condition is inherited in an autosomal recessive manner.
SpecialtyDermatology
CausesDeletion in the POMP gene

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome (KLICK syndrome) is a rare cutaneous condition characterized by ichthyosis and keratoderma.[1][2]

It is an autosomal recessive disorder associated with a deletion in the transcription gene POMP, which codes proteasome maturation protein.[3][4] This prevents the correct formation of filaggrin from profilaggrin.[5]

Sympotmatic treatment with keratolytics and retinoids is successful, but if treatment is stopped, symptoms recur.[5]

See also

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 778. ISBN 978-1-4160-2999-1.
  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. Archived from the original on 2012-03-08.
  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.
  4. ^ Baeta, IG; Pereira, AC; Guedes, AC; Pereira, LB (2011). "Do you know this syndrome?". Anais Brasileiros de Dermatologia. 86 (3): 605–7. doi:10.1590/S0365-05962011000300036. PMID 21738991.Open access icon
  5. ^ a b Foley, Catherine C.; Paller, Amy S.; Irvine, Alan D. (2015). "Chapter 19: Disorders of cornification (icthyosis)". In Eichenfield, Lawrence F.; Frieden, Ilona J. (eds.). Neonatal and infant dermatology (3rd ed.). Elsevier Inc. p. 301. ISBN 978-1-4557-2638-7.

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