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Xu, R. Nonbullous Congenital Ichthyosiform Erythroderma. Encyclopedia. Available online: https://encyclopedia.pub/entry/4595 (accessed on 23 September 2026).
Xu R. Nonbullous Congenital Ichthyosiform Erythroderma. Encyclopedia. Available at: https://encyclopedia.pub/entry/4595. Accessed September 23, 2026.
Xu, Rita. "Nonbullous Congenital Ichthyosiform Erythroderma" Encyclopedia, https://encyclopedia.pub/entry/4595 (accessed September 23, 2026).
Xu, R. (2020, December 24). Nonbullous Congenital Ichthyosiform Erythroderma. In Encyclopedia. https://encyclopedia.pub/entry/4595
Xu, Rita. "Nonbullous Congenital Ichthyosiform Erythroderma." Encyclopedia. Web. 24 December, 2020.
Nonbullous Congenital Ichthyosiform Erythroderma
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma

Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin.

genetic conditions

References

  1. Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D,Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS,Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenitalichthyosis due to PNPLA1 mutation. Br J Dermatol. 2017 Jul;177(1):319-322. doi:10.1111/bjd.15570.
  2. Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H,Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC.Molecular analysis of 250 patients with autosomal recessive congenitalichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity inALOX12B. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409.
  3. Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Mutation spectrum and functional analysis of epidermis-typelipoxygenases in patients with autosomal recessive congenital ichthyosis. HumMutat. 2005 Oct;26(4):351-61.
  4. Kirchmeier P, Zimmer A, Bouadjar B, Rösler B, Fischer J.Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients withAutosomal Recessive Inherited Ichthyosis. Acta Derm Venereol. 2017 Jan4;97(1):102-104. doi: 10.2340/00015555-2510.
  5. Krieg P, Fürstenberger G. The role of lipoxygenases in epidermis. BiochimBiophys Acta. 2014 Mar;1841(3):390-400. doi: 10.1016/j.bbalip.2013.08.005.
  6. Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. Non-bullouscongentital ichthyosiform erythroderma associated with homozygosity for a novelmissense mutation in an ATP binding domain of ABCA12. Eur J Dermatol. 2012Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638.
  7. Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A,Vahlquist A, Fischer J. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132Patients. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi:10.2340/00015555-2418.
  8. Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 796
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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