Lamellar Ichthyosis

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Xu, C. Lamellar Ichthyosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/4482 (accessed on 28 September 2026).

Xu C. Lamellar Ichthyosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/4482. Accessed September 28, 2026.

Xu, Camila. "Lamellar Ichthyosis" Encyclopedia, https://encyclopedia.pub/entry/4482 (accessed September 28, 2026).

Xu, C. (2020, December 23). Lamellar Ichthyosis. In Encyclopedia. https://encyclopedia.pub/entry/4482

Xu, Camila. "Lamellar Ichthyosis." Encyclopedia. Web. 23 December, 2020.

Lamellar Ichthyosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/lamellar-ichthyosis

Lamellar ichthyosis is a condition that mainly affects the skin.

genetic conditions

References

Akiyama M. ABCA12 mutations and autosomal recessive congenital ichthyosis: areview of genotype/phenotype correlations and of pathogenetic concepts. HumMutat. 2010 Oct;31(10):1090-6. doi: 10.1002/humu.21326. Review.
Farasat S, Wei MH, Herman M, Liewehr DJ, Steinberg SM, Bale SJ, Fleckman P,Toro JR. Novel transglutaminase-1 mutations and genotype-phenotype investigationsof 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet. 2009 Feb;46(2):103-11. doi: 10.1136/jmg.2008.060905.
Herman ML, Farasat S, Steinbach PJ, Wei MH, Toure O, Fleckman P, Blake P, BaleSJ, Toro JR. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1.Hum Mutat. 2009 Apr;30(4):537-47. doi: 10.1002/humu.20952. Review.
Israeli S, Khamaysi Z, Fuchs-Telem D, Nousbeck J, Bergman R, Sarig O, SprecherE. A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form ofautosomal-recessive congenital ichthyosis. Am J Hum Genet. 2011 Apr8;88(4):482-7. doi: 10.1016/j.ajhg.2011.02.011.
Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, LeachmanS, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification ofinherited ichthyoses: results of the First Ichthyosis Consensus Conference inSorèze 2009. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi:10.1016/j.jaad.2009.11.020. Review.
Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Autosomal recessivecongenital ichthyosis. Actas Dermosifiliogr. 2013 May;104(4):270-84. doi:10.1016/j.adengl.2011.11.021.
Terrinoni A, Serra V, Codispoti A, Talamonti E, Bui L, Palombo R, Sette M,Campione E, Didona B, Annicchiarico-Petruzzelli M, Zambruno G, Melino G, Candi E.Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis.Cell Death Dis. 2012 Oct 25;3:e416. doi: 10.1038/cddis.2012.152.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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