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Keratinopathic ichthyosis

MedGen UID:
1393111
Concept ID:
C4511307
Disease or Syndrome
Synonyms: keratinopathic ichthyosis; KPI
SNOMED CT: Keratinopathic ichthyosis (724837004)
 
Monarch Initiative: MONDO:0017266
Orphanet: ORPHA281103

Definition

A group of rare inherited non-syndromic ichthyoses characterized by mutations in keratin genes. Mutations in KRT1 and KRT10 cause most cases of epidermolytic ichthyosis (EI), as well as congenital reticular ichthyosiform erythroderma (CRIE). EI manifests at birth with generalized blistering, which later transforms into hyperkeratosis. Severe palmoplantar involvement is suggestive of the presence of a KRT1 mutation. CRIE patients present at birth with erythroderma and scaling, often with a collodion membrane, and gradually develop confetti-like clear areas of normal skin. KRT2 mutations are associated with superficial epidermolytic ichthyosis (SEI), which is clinically similar to EI, but generally milder and more localized. [from ORDO]

Professional guidelines

PubMed

Oji V, Traupe H
Am J Clin Dermatol 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. PMID: 19824737

Recent clinical studies

Etiology

Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J
Acta Derm Venereol 2016 May;96(4):473-8. doi: 10.2340/00015555-2299. PMID: 26581228
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
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, Leachman S, 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
J Am Acad Dermatol 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. PMID: 20643494
Oji V, Traupe H
Am J Clin Dermatol 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. PMID: 19824737

Diagnosis

Anker P, Fésűs L, Kiss N, Noll J, Becker K, Kuroli E, Mayer B, Bozsányi S, Lőrincz K, Lihacova I, Lihachev A, Lange M, Wikonkál N, Medvecz M
Sensors (Basel) 2021 Feb 5;21(4) doi: 10.3390/s21041105. PMID: 33562614Free PMC Article
Takeichi T, Akiyama M
J Dermatol 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. PMID: 26945532
Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J
Acta Derm Venereol 2016 May;96(4):473-8. doi: 10.2340/00015555-2299. PMID: 26581228
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
Oji V, Traupe H
Am J Clin Dermatol 2009;10(6):351-64. doi: 10.2165/11311070-000000000-00000. PMID: 19824737

Therapy

Chamcheu JC, Wood GS, Siddiqui IA, Syed DN, Adhami VM, Teng JM, Mukhtar H
Exp Dermatol 2012 Jul;21(7):481-9. doi: 10.1111/j.1600-0625.2012.01534.x. PMID: 22716242Free PMC Article
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, Leachman S, 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
J Am Acad Dermatol 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. PMID: 20643494

Prognosis

Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has C
J Eur Acad Dermatol Venereol 2021 Nov;35(11):2293-2299. Epub 2021 Jul 29 doi: 10.1111/jdv.17524. PMID: 34273205
Chamcheu JC, Wood GS, Siddiqui IA, Syed DN, Adhami VM, Teng JM, Mukhtar H
Exp Dermatol 2012 Jul;21(7):481-9. doi: 10.1111/j.1600-0625.2012.01534.x. PMID: 22716242Free PMC Article
Chamcheu JC, Siddiqui IA, Syed DN, Adhami VM, Liovic M, Mukhtar H
Arch Biochem Biophys 2011 Apr 15;508(2):123-37. Epub 2010 Dec 19 doi: 10.1016/j.abb.2010.12.019. PMID: 21176769Free PMC Article
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, Leachman S, 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
J Am Acad Dermatol 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. PMID: 20643494

Clinical prediction guides

Frommherz L, Krause A, Kopp J, Hotz A, Hübner S, Reimer-Taschenbrecker A, Casetti F, Zirn B, Fischer J, Has C
J Eur Acad Dermatol Venereol 2021 Nov;35(11):2293-2299. Epub 2021 Jul 29 doi: 10.1111/jdv.17524. PMID: 34273205
Seidl-Philipp M, Schatz UA, Gasslitter I, Moosbrugger-Martinz V, Blunder S, Schossig AS, Zschocke J, Schmuth M, Gruber R
J Dtsch Dermatol Ges 2020 Jan;18(1):17-25. Epub 2019 Oct 23 doi: 10.1111/ddg.13968. PMID: 31642606

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