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. | |
| Specialty | Dermatology |
| Causes | Deletion 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
[edit]References
[edit]- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
- ^ 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.
