Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome explained

Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome
Field:	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.

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

See also

• CEDNIK syndrome
• List of cutaneous conditions

Notes and References

1. Book: Rapini, Ronald P. . Bolognia, Jean L. . Jorizzo, Joseph L. . Dermatology: 2-Volume Set . Mosby . St. Louis . 2007 . 778 . 978-1-4160-2999-1 .
2. Pujol RM, Moreno A, Alomar A, de Moragas JM . Congenital ichthyosiform dermatosis with linear keratotic flexural papules and sclerosing palmoplantar keratoderma . Arch Dermatol . 125 . 1 . 103–6 . January 1989 . 2521286 . 10.1001/archderm.125.1.103 . https://archive.today/20120308155541/http://archderm.ama-assn.org/cgi/pmidlookup?view=long&pmid=2521286 . dead . 2012-03-08 .
3. Dahlqvist J, Klar J, Tiwari N, etal . 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 . April 2010 . 20226437 . 10.1016/j.ajhg.2010.02.018. 2850438.
4. Baeta . IG . Pereira . AC . Guedes . AC . Pereira . LB . Do you know this syndrome? . Anais Brasileiros de Dermatologia . 2011 . 86 . 3 . 605–7 . 21738991. 10.1590/S0365-05962011000300036. free .
5. Book: Foley . Catherine C. . Paller . Amy S. . Irvine . Alan D. . Eichenfield . Lawrence F. . Frieden . Ilona J. . Neonatal and infant dermatology . 2015 . Elsevier Inc . 978-1-4557-2638-7 . 301 . 3rd . https://books.google.com/books?id=ndfsAwAAQBAJ&pg=PA301 . Chapter 19: Disorders of cornification (icthyosis).