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Reduced epidermal collagen IV protein expression

MedGen UID:
1841992
•Concept ID:
C5826490
•
Finding
Synonym: Skin biopsy: collagen IV antibody staining abnormal or absent
 
HPO: HP:0034575

Term Hierarchy

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

Recent clinical studies

Etiology

Newborn and elderly skin: two fragile skins at higher risk of pressure injury.
de Bengy AF, Lamartine J, Sigaudo-Roussel D, Fromy B
Biol Rev Camb Philos Soc 2022 Jun;97(3):874-895. Epub 2021 Dec 15 doi: 10.1111/brv.12827. PMID: 34913582
Possible mechanisms explaining the tendency towards interstitial fibrosis in aristolochic acid-induced acute tubular necrosis.
Yang L, Li X, Wang H
Nephrol Dial Transplant 2007 Feb;22(2):445-56. Epub 2006 Nov 23 doi: 10.1093/ndt/gfl556. PMID: 17124284
Identification of specific human epithelial cell integrin receptors as VLA proteins.
Staquet MJ, Levarlet B, Dezutter-Dambuyant C, Schmitt D, Thivolet J
Exp Cell Res 1990 Apr;187(2):277-83. doi: 10.1016/0014-4827(90)90092-o. PMID: 2180734

Diagnosis

Newborn and elderly skin: two fragile skins at higher risk of pressure injury.
de Bengy AF, Lamartine J, Sigaudo-Roussel D, Fromy B
Biol Rev Camb Philos Soc 2022 Jun;97(3):874-895. Epub 2021 Dec 15 doi: 10.1111/brv.12827. PMID: 34913582
Functional assessment of a novel COL4A5 splice region variant and immunostaining of plucked hair follicles as an alternative method of diagnosis in X-linked Alport syndrome.
Malone AF, Funk SD, Alhamad T, Miner JH
Pediatr Nephrol 2017 Jun;32(6):997-1003. Epub 2016 Dec 24 doi: 10.1007/s00467-016-3565-4. PMID: 28013382Free PMC Article

Therapy

Thyroid Hormones Enhance Mitochondrial Function in Human Epidermis.
Vidali S, Chéret J, Giesen M, Haeger S, Alam M, Watson REB, Langton AK, Klinger M, Knuever J, Funk W, Kofler B, Paus R
J Invest Dermatol 2016 Oct;136(10):2003-2012. Epub 2016 Jun 25 doi: 10.1016/j.jid.2016.05.118. PMID: 27349864
In vivo topical application of acetyl aspartic acid increases fibrillin-1 and collagen IV deposition leading to a significant improvement of skin firmness.
Gillbro JM, Merinville E, Cattley K, Al-Bader T, Hagforsen E, Nilsson M, Mavon A
Int J Cosmet Sci 2015 Oct;37 Suppl 1:41-6. doi: 10.1111/ics.12250. PMID: 26132508
Possible mechanisms explaining the tendency towards interstitial fibrosis in aristolochic acid-induced acute tubular necrosis.
Yang L, Li X, Wang H
Nephrol Dial Transplant 2007 Feb;22(2):445-56. Epub 2006 Nov 23 doi: 10.1093/ndt/gfl556. PMID: 17124284
Blood stasis contributions to the perception of skin pigmentation.
Stamatas GN, Kollias N
J Biomed Opt 2004 Mar-Apr;9(2):315-22. doi: 10.1117/1.1647545. PMID: 15065897
UVA irradiation stimulates the synthesis of various matrix-metalloproteinases (MMPs) in cultured human fibroblasts.
Herrmann G, Wlaschek M, Lange TS, Prenzel K, Goerz G, Scharffetter-Kochanek K
Exp Dermatol 1993 Mar;2(2):92-7. doi: 10.1111/j.1600-0625.1993.tb00015.x. PMID: 8156175

Prognosis

Collagens XV and XVIII show different expression and localisation in cutaneous squamous cell carcinoma: type XV appears in tumor stroma, while XVIII becomes upregulated in tumor cells and lost from microvessels.
Karppinen SM, Honkanen HK, Heljasvaara R, Riihilä P, Autio-Harmainen H, Sormunen R, Harjunen V, Väisänen MR, Väisänen T, Hurskainen T, Tasanen K, Kähäri VM, Pihlajaniemi T
Exp Dermatol 2016 May;25(5):348-54. doi: 10.1111/exd.12913. PMID: 26660139
Novel approach to specific growth factor inhibition in vivo: antagonism of platelet-derived growth factor in glomerulonephritis by aptamers.
Floege J, Ostendorf T, Janssen U, Burg M, Radeke HH, Vargeese C, Gill SC, Green LS, Janjić N
Am J Pathol 1999 Jan;154(1):169-79. doi: 10.1016/S0002-9440(10)65263-7. PMID: 9916931Free PMC Article

Clinical prediction guides

Effect of α-Lipoic Acid on the Development of Human Skin Equivalents Using a Pumpless Skin-on-a-Chip Model.
Kim K, Kim J, Kim H, Sung GY
Int J Mol Sci 2021 Feb 22;22(4) doi: 10.3390/ijms22042160. PMID: 33671528Free PMC Article
Reduced immunohistochemical expression of adhesion molecules in vitiligo skin biopsies.
Reichert Faria A, Jung JE, Silva de Castro CC, de Noronha L
Pathol Res Pract 2017 Mar;213(3):199-204. Epub 2016 Dec 30 doi: 10.1016/j.prp.2016.12.019. PMID: 28214208
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
Type XVII collagen (BP180) can function as a cell-matrix adhesion molecule via binding to laminin 332.
Van den Bergh F, Eliason SL, Giudice GJ
Matrix Biol 2011 Mar;30(2):100-8. Epub 2010 Oct 26 doi: 10.1016/j.matbio.2010.10.005. PMID: 21034821Free PMC Article
A model of autosomal recessive Alport syndrome in English cocker spaniel dogs.
Lees GE, Helman RG, Kashtan CE, Michael AF, Homco LD, Millichamp NJ, Ninomiya Y, Sado Y, Naito I, Kim Y
Kidney Int 1998 Sep;54(3):706-19. doi: 10.1046/j.1523-1755.1998.00062.x. PMID: 9734596

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