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Reduced epidermal collagen VII protein expression

MedGen UID:
1841898
•Concept ID:
C5826492
•
Finding
Synonym: Skin biopsy: collagen VII antibody staining abnormal or absent
 
HPO: HP:0034577

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced epidermal collagen VII protein expression

Professional guidelines

PubMed

PDE4 Inhibition as Potential Treatment of Epidermolysis Bullosa Acquisita.
Koga H, Recke A, Vidarsson G, Pas HH, Jonkman MF, Hashimoto T, Kasprick A, Ghorbanalipoor S, Tenor H, Zillikens D, Ludwig RJ
J Invest Dermatol 2016 Nov;136(11):2211-2220. Epub 2016 Jul 5 doi: 10.1016/j.jid.2016.06.619. PMID: 27388992

Recent clinical studies

Etiology

MicroRNA-145-5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts.
Condorelli AG, Logli E, Cianfarani F, Teson M, Diociaiuti A, El Hachem M, Zambruno G, Castiglia D, Odorisio T
Br J Dermatol 2019 Nov;181(5):1017-1027. Epub 2019 Oct 20 doi: 10.1111/bjd.17840. PMID: 30816994
Enzymatic autoantibody glycan hydrolysis alleviates autoimmunity against type VII collagen.
Hirose M, Vafia K, Kalies K, Groth S, Westermann J, Zillikens D, Ludwig RJ, Collin M, Schmidt E
J Autoimmun 2012 Dec;39(4):304-14. Epub 2012 May 30 doi: 10.1016/j.jaut.2012.04.002. PMID: 22652418
Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.
Martins VL, Vyas JJ, Chen M, Purdie K, Mein CA, South AP, Storey A, McGrath JA, O'Toole EA
J Cell Sci 2009 Jun 1;122(Pt 11):1788-99. Epub 2009 May 12 doi: 10.1242/jcs.042895. PMID: 19435799Free PMC Article

Diagnosis

Two cases of recessive dystrophic epidermolysis bullosa diagnosed as severe generalized.
Ohashi M, Shu E, Nagai M, Murase K, Nakano H, Tamai K, Sawamura D, Hiroka T, Seishima M, Kitajima Y, Aoyama Y
J Dermatol 2011 Sep;38(9):893-9. Epub 2011 Jun 9 doi: 10.1111/j.1346-8138.2011.01230.x. PMID: 21658117

Therapy

Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.
Woodley DT, Cogan J, Hou Y, Lyu C, Marinkovich MP, Keene D, Chen M
J Clin Invest 2017 Aug 1;127(8):3028-3038. Epub 2017 Jul 10 doi: 10.1172/JCI92707. PMID: 28691931Free PMC Article
PDE4 Inhibition as Potential Treatment of Epidermolysis Bullosa Acquisita.
Koga H, Recke A, Vidarsson G, Pas HH, Jonkman MF, Hashimoto T, Kasprick A, Ghorbanalipoor S, Tenor H, Zillikens D, Ludwig RJ
J Invest Dermatol 2016 Nov;136(11):2211-2220. Epub 2016 Jul 5 doi: 10.1016/j.jid.2016.06.619. PMID: 27388992
Topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure.
Wang X, Ghasri P, Amir M, Hwang B, Hou Y, Khalili M, Khilili M, Lin A, Keene D, Uitto J, Woodley DT, Chen M
Mol Ther 2013 Jul;21(7):1335-44. Epub 2013 May 14 doi: 10.1038/mt.2013.87. PMID: 23670575Free PMC Article
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.
Lai-Cheong JE, Parsons M, Tanaka A, Ussar S, South AP, Gomathy S, Mee JB, Barbaroux JB, Techanukul T, Almaani N, Clements SE, Hart IR, McGrath JA
Am J Pathol 2009 Oct;175(4):1431-41. Epub 2009 Sep 17 doi: 10.2353/ajpath.2009.081154. PMID: 19762710Free PMC Article
Morphogenesis of dermal-epidermal junction in a model of reconstructed skin: beneficial effects of vitamin C.
Marionnet C, Vioux-Chagnoleau C, Pierrard C, Sok J, Asselineau D, Bernerd F
Exp Dermatol 2006 Aug;15(8):625-33. doi: 10.1111/j.1600-0625.2006.00454.x. PMID: 16842601

Prognosis

Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y
Am J Hum Genet 1997 Sep;61(3):599-610. doi: 10.1086/515495. PMID: 9326325Free PMC Article
Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.
Fine JD, Johnson LB, Cronce D, Wright JT, Leigh IM, McCollough M, Briggaman RA
J Invest Dermatol 1993 Aug;101(2):232-6. doi: 10.1111/1523-1747.ep12364899. PMID: 8345225

Clinical prediction guides

hTERT-Driven Immortalization of RDEB Fibroblast and Keratinocyte Cell Lines Followed by Cre-Mediated Transgene Elimination.
Evtushenko NA, Beilin AK, Dashinimaev EB, Ziganshin RH, Kosykh AV, Perfilov MM, Rippa AL, Alpeeva EV, Vasiliev AV, Vorotelyak EA, Gurskaya NG
Int J Mol Sci 2021 Apr 7;22(8) doi: 10.3390/ijms22083809. PMID: 33916959Free PMC Article
Type IV collagen is a novel DEJ biomarker that is reduced by radiotherapy.
McGuire JD, Gorski JP, Dusevich V, Wang Y, Walker MP
J Dent Res 2014 Oct;93(10):1028-34. Epub 2014 Aug 21 doi: 10.1177/0022034514548221. PMID: 25146181Free PMC Article
Overexpression of the Flii gene increases dermal-epidermal blistering in an autoimmune ColVII mouse model of epidermolysis bullosa acquisita.
Kopecki Z, Arkell RM, Strudwick XL, Hirose M, Ludwig RJ, Kern JS, Bruckner-Tuderman L, Zillikens D, Murrell DF, Cowin AJ
J Pathol 2011 Nov;225(3):401-13. Epub 2011 Sep 26 doi: 10.1002/path.2973. PMID: 21984127
Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S
J Dermatol Sci 2009 May;54(2):114-20. Epub 2009 Mar 3 doi: 10.1016/j.jdermsci.2009.01.006. PMID: 19261445
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
Hovnanian A, Rochat A, Bodemer C, Petit E, Rivers CA, Prost C, Fraitag S, Christiano AM, Uitto J, Lathrop M, Barrandon Y, de Prost Y
Am J Hum Genet 1997 Sep;61(3):599-610. doi: 10.1086/515495. PMID: 9326325Free PMC Article

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