Keloid scarring: Understanding the genetic basis, advances, and prospects

Archives of Plastic Surgery

Volumn 39, Issue 3, 2012, Pages 184-189

  Halim, Ahmad Sukari ^a   Emami, Azadeh ^a   Salahshourifar, Iman ^a   Kannan, Tirumulu Ponnuraj ^a,b  

^a SCHOOL OF MEDICAL SCIENCES   (Malaysia)

^b SCHOOL OF HEALTH SCIENCES   (Malaysia)

Author keywords

Environmental exposure; Genetics; Keloid; Skin diseases

Indexed keywords

COLLAGEN TYPE 1; COLLAGEN TYPE 3; COLLAGEN TYPE 6; HLA DRB1 ANTIGEN; PLATELET DERIVED GROWTH FACTOR; SMAD2 PROTEIN; SMAD3 PROTEIN; TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2; UBIQUITIN PROTEIN LIGASE NEDD4; VASCULOTROPIN;

EHLERS DANLOS SYNDROME; EPIGENETICS; GENE EXPRESSION; GENE INTERACTION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC LINKAGE; HUMAN; KELOID; LEIGH DISEASE; MONOZYGOTIC TWINS; REVIEW; RUBINSTEIN SYNDROME;

EID: 84873419223     PISSN: 22346163     EISSN: 22346171     Source Type: Journal    
DOI: 10.5999/aps.2012.39.3.184     Document Type: Review

References (46)

1. Kelly A P. Medical and surgical therapies for keloids. Derma-tol Ter 2004;17:212-8.
2. Kelly AP. Keloids. Dermatol Clin 1988;6:413-24.
3. Child FJ, Fuller LC, Higgins EM, et al. A study of the spectrum of skin disease occurring in a black population in south-east London. Br J Dermatol 1999;141:512-7.
4. Shaffer JJ, Taylor SC, Cook-Bolden F. Keloidal scars: a review with a critical look at therapeutic options. J Am Acad Dermatol 2002;46:S63-97.
5. Marneros AG, Norris JE, Olsen BR, et al. Clinical genetics of familial keloids. Arch Dermatol 2001;137:1429-34.
6. LeFlore IC. Misconceptions regarding elective plastic surgery in the black patient. J Natl Med Assoc 1980;72:947-8.
7. Alhady SM, Sivanantharajah K. Keloids in various races: a review of 175 cases. Plast Reconstr Surg 1969;44:564-6.
8. Bayat A, Arscot G, Ollier WE, et al. "Aggressive keloid": a severe variant of familial keloid scarring. J R Soc Med 2003; 96:554-5.
9. Marneros AG, Norris JE, Watanabe S, et al. Genome scans provide evidence for keloid susceptibility loci on chromosomes 2q23 and 7p11. J Invest Dermatol 2004;122:1126-32.
10. Chen Y, Gao JH, Liu XJ, et al. Characteristics of occurrence for Han Chinese familial keloids. Burns 2006;32:1052-9.
11. Bella H, Heise M, Yagi KI, et al. A clinical characterization of familial keloid disease in unique African tribes reveals distinct keloid phenotypes. Plast Reconstr Surg 2011;127:689-702.
12. Ramakrishnan KM, Thomas KP, Sundararajan CR. Study of 1,000 patients with keloids in South India. Plast Reconstr Surg 1974;53:276-80.
13. Omo-Dare P. Genetic studies on keloid. J Natl Med Assoc 1975;67:428-32.
14. Shih B, Bayat A. Genetics of keloid scarring. Arch Dermatol Res 2010;302:319-39.
15. Stevens CA, Pouncey J, Knowles D. Adults with Rubinstein-Taybi syndrome. Am J Med Genet A 2011;155A:1680-4.
16. Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol 1989;17:485-91.
17. Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature 1995;376:348-51.
18. Nadeau A, Kinali M, Main M, et al. Natural history of Ullrich congenital muscular dystrophy. Neurology 2009;73:25-31.
19. Goeminne L. A new probably X-linked inherited syndrome: congenital muscular torticollis, multiple keloids cryptorchi-dism and renal dysplasia. Acta Genet Med Gemellol (Roma) 1968;17:439-67.
20. Sidgwick GP, Bayat A. Extracellular matrix molecules implicated in hypertrophic and keloid scarring. J Eur Acad Der-matol Venereol 2012;26:141-52.
21. Chalmers RL. The evidence for the role of transforming growth factor-beta in the formation of abnormal scarring. Int Wound J 2011;8:218-23.
22. Murata H, Zhou L, Ochoa S, et al. TGF-beta3 stimulates and regulates collagen synthesis through TGF-beta1-dependent and independent mechanisms. J Invest Dermatol 1997;108: 258-62.
23. Thompson SA, Canady JW, Coberly DM, et al. Effects of TGFbeta2 on collagen synthesis in cultured normal and wounded fetal mouse palates. Clef Palate Craniofac J 1999; 36:425-33.
24. Bettinger DA, Yager DR, Diegelmann RF, et al. The effect of TGF-beta on keloid fbroblast proliferation and collagen synthesis. Plast Reconstr Surg 1996;98:827-33.
25. Peltonen J, Hsiao LL, Jaakkola S, et al. Activation of collagen gene expression in keloids: co-localization of type I and VI collagen and transforming growth factor-beta 1 mRNA. J Invest Dermatol 1991;97:240-8.
26. Messadi DV, Le A, Berg S, et al. Efect of TGF-beta 1 on PDGF receptors expression in human scar fibroblasts. Front Biosci 1998;3:a16-22.
27. Fujiwara M, Muragaki Y, Ooshima A. Upregulation of transforming growth factor-beta1 and vascular endothelial growth factor in cultured keloid fbroblasts: relevance to angiogenic activity. Arch Dermatol Res 2005;297:161-9.
28. Gao Z, Wang Z, Shi Y, et al. Modulation of collagen synthesis in keloid fbroblasts by silencing Smad2 with siRNA. Plast Reconstr Surg 2006;118:1328-37.
29. Wang Z, Gao Z, Shi Y, et al. Inhibition of Smad3 expression decreases collagen synthesis in keloid disease fbroblasts. J Plast Reconstr Aesthet Surg 2007;60:1193-9.
30. Chen Y, Gao JH, Liu XJ, et al. Linkage analysis of keloid susceptibility loci on chromosome 7p11 in a Chinese pedigree. Nan Fang Yi Ke Da Xue Xue Bao 2006;26:623-5.
31. Yan X, Gao JH, Chen Y, et al. Preliminary linkage analysis and mapping of keloid susceptibility locus in a Chinese pedigree. Zhonghua Zheng Xing Wai Ke Za Zhi 2007;23: 32-5.
32. Chen Y, Gao JH, Yan X, et al. Location of predisposing gene for one Han Chinese keloid pedigree. Zhonghua Zheng Xing Wai Ke Za Zhi 2007;23:137-40.
33. Bayat A, Bock O, Mrowietz U, et al. Genetic susceptibility to keloid disease and transforming growth factor beta 2 polymorphisms. Br J Plast Surg 2002;55:283-6.
34. Bayat A, Bock O, Mrowietz U, et al. Genetic susceptibility to keloid disease and hypertrophic scarring: transforming growth factor beta1 common polymorphisms and plasma levels. Plast Reconstr Surg 2003;111:535-43.
35. Bayat A, Bock O, Mrowietz U, et al. Genetic susceptibility to keloid disease: transforming growth factor beta receptor gene polymorphisms are not associated with keloid disease. Exp Dermatol 2004;13:120-4.
36. Bayat A, Walter JM, Bock O, et al. Genetic susceptibility to keloid disease: mutation screening of the TGFbeta3 gene. Br J Plast Surg 2005;58:914-21.
37. Lu WS, Zhang WY, Li Y, et al. Association of HLA-DRB1 alleles with keloids in Chinese Han individuals. Tissue Antigens 2010;76:276-81.
38. Zhang G, Jiang J, Luo S, et al. Analyses of CDC2L1 gene mutations in keloid tissue. Clin Exp Dermatol 2012;37:277-83.
39. Brown JJ, Ollier WE, Tomson W, et al. Positive association of HLA-DRB1*15 with keloid disease in Caucasians. Int J Immunogenet 2008;35:303-7.
40. Yan L, Lu XY, Wang CM, et al. Association between p53 gene codon 72 polymorphism and keloid in Chinese population. Zhonghua Zheng Xing Wai Ke Za Zhi 2007;23:428-30.
41. Grainger DJ, Heathcote K, Chiano M, et al. Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet 1999;8:93-7.
42. Brown JJ, Ollier W, Arscot G, et al. Genetic susceptibility to keloid scarring: SMAD gene SNP frequencies in Afro-Caribbeans. Exp Dermatol 2008;17:610-3.
43. Shih B, Bayat A. Comparative genomic hybridisation analysis of keloid tissue in Caucasians suggests possible involvement of HLA-DRB5 in disease pathogenesis. Arch Derma-tol Res. 2012;304:241-9.
44. Nakashima M, Chung S, Takahashi A, et al. A genome-wide association study identifes four susceptibility loci for keloid in the Japanese population. Nat Genet 2010;42:768-71.
45. Chung S, Nakashima M, Zembutsu H, et al. Possible involvement of NEDD4 in keloid formation; its critical role in fbro blast proliferation and collagen production. Proc Jpn Acad Ser B Phys Biol Sci 2011;87:563-73
46. Russell SB, Russell JD, Trupin KM, et al. Epigenetically altered wound healing in keloid fbroblasts. J Invest Dermatol. 2010;130:2489-96