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Abnormal keratinocyte morphology

MedGen UID:
1841684
Concept ID:
C5826598
Finding
HPO: HP:0034702

Definition

Any structural anomaly of the keratinocyte. The keratinocyte is the major cell type of the epidermis and is responsible for generating the protective barrier. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal keratinocyte morphology

Professional guidelines

PubMed

Fu Z, He Y, Gao L, Tong X, Zhou L, Zeng J
Eur J Clin Invest 2023 Jun;53(6):e13959. Epub 2023 Feb 7 doi: 10.1111/eci.13959. PMID: 36708067
Gruber R, Elias PM, Crumrine D, Lin TK, Brandner JM, Hachem JP, Presland RB, Fleckman P, Janecke AR, Sandilands A, McLean WH, Fritsch PO, Mildner M, Tschachler E, Schmuth M
Am J Pathol 2011 May;178(5):2252-63. doi: 10.1016/j.ajpath.2011.01.053. PMID: 21514438Free PMC Article
Stenderup K, Rosada C, Worsaae A, Clausen JT, Norman Dam T
Ann N Y Acad Sci 2007 Sep;1110:368-81. doi: 10.1196/annals.1423.039. PMID: 17911452

Recent clinical studies

Etiology

Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761
Vahlquist A, Törmä H
Acta Derm Venereol 2020 Mar 25;100(7):adv00097. doi: 10.2340/00015555-3433. PMID: 32147743Free PMC Article
Bachelez H
Br J Dermatol 2018 Mar;178(3):614-618. Epub 2018 Jan 15 doi: 10.1111/bjd.16232. PMID: 29333670
Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R
Eur J Hum Genet 2013 Feb;21(2):123-33. Epub 2012 Jun 27 doi: 10.1038/ejhg.2012.121. PMID: 22739337Free PMC Article
Malhotra SK, Puri KJ, Goyal T, Chahal KS
Dermatol Online J 2007 Oct 13;13(4):15. PMID: 18319012

Diagnosis

Hawasli AH, Beaumont TL, Vogel TW, Woo AS, Leonard JR
J Neurosurg Pediatr 2014 Aug;14(2):200-2. Epub 2014 Jun 13 doi: 10.3171/2014.5.PEDS13688. PMID: 24926969
Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R
Eur J Hum Genet 2013 Feb;21(2):123-33. Epub 2012 Jun 27 doi: 10.1038/ejhg.2012.121. PMID: 22739337Free PMC Article
Moharamzadeh K, Colley H, Murdoch C, Hearnden V, Chai WL, Brook IM, Thornhill MH, Macneil S
J Dent Res 2012 Jul;91(7):642-50. Epub 2012 Jan 19 doi: 10.1177/0022034511435702. PMID: 22266525
Sugarman JL
Semin Cutan Med Surg 2007 Dec;26(4):221-30. doi: 10.1016/j.sder.2008.03.006. PMID: 18395670
Grosshans EM
Am J Med Genet 1999 Aug 6;85(4):334-7. PMID: 10398254

Therapy

Sharma A, Upadhyay DK, Gupta GD, Narang RK, Rai VK
Curr Drug Res Rev 2022;14(1):24-36. doi: 10.2174/2589977513666210707114520. PMID: 34238181
Jeong D, Qomaladewi NP, Lee J, Park SH, Cho JY
J Invest Dermatol 2020 Sep;140(9):1691-1697. doi: 10.1016/j.jid.2019.11.023. PMID: 32800183
Kanda N, Hoashi T, Saeki H
Int J Mol Sci 2020 Jul 29;21(15) doi: 10.3390/ijms21155405. PMID: 32751360Free PMC Article
Kuechle MK, Elkon KB
Arthritis Res Ther 2007;9(1):101. doi: 10.1186/ar2100. PMID: 17284304Free PMC Article
Norris PG, Hawk JL
Photodermatol Photoimmunol Photomed 1990 Oct;7(5):186-91. PMID: 2091741

Prognosis

Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761
Evtushenko NA, Beilin AK, Kosykh AV, Vorotelyak EA, Gurskaya NG
Int J Mol Sci 2021 Nov 18;22(22) doi: 10.3390/ijms222212446. PMID: 34830328Free PMC Article
Nishie W
Acta Derm Venereol 2020 Feb 12;100(5):adv00054. doi: 10.2340/00015555-3399. PMID: 32039455Free PMC Article
Aziz H, Zia A, Anwer A, Aziz M, Fatima S, Faheem M
J Med Virol 2017 Jun;89(6):943-951. Epub 2017 Feb 16 doi: 10.1002/jmv.24731. PMID: 27862008
Samuelov L, Sprecher E
J Allergy Clin Immunol 2014 Oct;134(4):808-15. doi: 10.1016/j.jaci.2014.07.061. PMID: 25282561

Clinical prediction guides

Luo CH, Lai AC, Tsai CC, Chen WY, Chang YS, Chung EJ, Chang YJ
JCI Insight 2024 Feb 6;9(6) doi: 10.1172/jci.insight.166821. PMID: 38319737Free PMC Article
Peled A, Sarig O, Mohamad J, Eskin-Schwartz M, Vodo D, Bochner R, Malchin N, Isakov O, Shomron N, Fainberg G, Bertolini M, Paus R, Sprecher E
Am J Med Genet A 2023 Dec;191(12):2806-2812. Epub 2023 Sep 19 doi: 10.1002/ajmg.a.63408. PMID: 37724761
Bollag WB, Aitkens L, White J, Hyndman KA
Am J Physiol Cell Physiol 2020 Jun 1;318(6):C1144-C1153. Epub 2020 Apr 8 doi: 10.1152/ajpcell.00075.2020. PMID: 32267715Free PMC Article
Sangiovanni E, Fumagalli M, Pacchetti B, Piazza S, Magnavacca A, Khalilpour S, Melzi G, Martinelli G, Dell'Agli M
Phytother Res 2019 Aug;33(8):2083-2093. Epub 2019 Jun 27 doi: 10.1002/ptr.6400. PMID: 31250491
Aziz H, Zia A, Anwer A, Aziz M, Fatima S, Faheem M
J Med Virol 2017 Jun;89(6):943-951. Epub 2017 Feb 16 doi: 10.1002/jmv.24731. PMID: 27862008

Recent systematic reviews

Fukasawa T, Yoshizaki-Ogawa A, Enomoto A, Yamashita T, Miyagawa K, Sato S, Yoshizaki A
Immunol Med 2024 Sep;47(3):118-129. Epub 2024 May 31 doi: 10.1080/25785826.2024.2360690. PMID: 38818750
Russo B, Brembilla NC, Chizzolini C
Front Immunol 2020;11:648. Epub 2020 May 6 doi: 10.3389/fimmu.2020.00648. PMID: 32477322Free PMC Article

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