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CASE REPORT

KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report

Pages 713-716 | Received 13 Nov 2023, Accepted 03 Mar 2024, Published online: 19 Mar 2024

References

  • Shah M, Patton E, Zedek D. Piebaldism. Treasure Island (FL): StatPearls Publishing; 2023.
  • Giebel LB, Spritz RA. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A. 1991;88(19):8696–8699. doi:10.1073/pnas.88.19.8696
  • Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, et al. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003;122A(2):125–132. doi:10.1002/ajmg.a.20345
  • Saleem MD. Biology of human melanocyte development, Piebaldism, and Waardenburg syndrome. Pediatr Dermatol. 2019;36(1):72–84. doi:10.1111/pde.13713
  • Pham DDM, Guhan S, Tsao H. KIT and melanoma: biological insights and clinical implications. Yonsei Med J. 2020;61(7):562–571. doi:10.3349/ymj.2020.61.7.562
  • Hu S, Chen Y, Zhao B, et al. KIT is involved in melanocyte proliferation, apoptosis and melanogenesis in REX rabbit. PeerJ. 2020;8:e9402. doi:10.7717/peerj.9402
  • Friedman JM. Neurofibromatosis 1: clinical manifestations and diagnostic criteria. J Child Neurol. 2002;17(8):548–651. doi:10.1177/088307380201700802
  • Akarsu S, Ilknur T, Avcı C, Fetil E. Piebaldism Associated with Café-au-lait Macules and Intertriginous Freckling: a Case Report and Review of the Literature. Ann Dermatol. 2019;31(5):567–570. doi:10.5021/ad.2019.31.5.567
  • Gaudiello F, Ferrillo M, Vastarella M, Fabbrocini G, Patrì A. Repigmentation of white forelock in a familial case of piebaldism reported via teledermatology in the COVID-19 era. Skin Appendage Disord. 2021;7(2):120–122. doi:10.1159/000512033
  • Fukai K, Hamada T, Ishii M, Kitajima J, Terao Y. Acquired pigmented macules in human piebald lesions. Ultrastructure of melanocytes in hypomelanotic skin. Acta Derm Venereol. 1989;69(6):524–527.
  • Matsunaga H, Tanioka M, Utani A, Miyachi Y. Familial case of piebaldism with regression of white forelock. Clin Exp Dermatol. 2008;33(4):511–512. doi:10.1111/j.1365-2230.2008.02703.x
  • Ward KA, Moss C, Sanders DS. Human piebaldism: relationship between phenotype and site of kit gene mutation. Br J Dermatol. 1995;132(6):929–935. doi:10.1111/j.1365-2133.1995.tb16951.x
  • Hayashibe K, Mishima Y. Tyrosinase-positive melanocyte distribution and induction of pigmentation in human piebald skin. Arch Dermatol. 1998;124(3):381–386. doi:10.1001/archderm.1988.01670030047020
  • Chiu YE, Dugan S, Basel D, Siegel DH. Association of Piebaldism, multiple cafe-au-lait macules, and intertriginous freckling: clinical evidence of a common pathway between KIT and sprouty-related, ena/vasodilator-stimulated phosphoprotein homology-1 domain containing protein 1 (SPRED1). Pediatr Dermatol. 2013;30(3):379–382. doi:10.1111/j.1525-1470.2012.01858.x
  • Li X, Xing X, Liang X, et al. Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family. Skin Res Technol. 2023;29(6):e13352. doi:10.1111/srt.13352
  • Hegde SS, Srinivas SM, Nanjundappa N. KIT gene mutation causing piebaldism associated with multiple café au-lait like macules and freckling: delineating a cause of this coexistence. Indian Dermatol Online J. 2022;14(2):240–244. doi:10.4103/idoj.idoj_368_22
  • Suga Y, Ikejima A, Matsuba S, Ogawa H. Medical pearl: DHA application for camouflaging segmental vitiligo and piebald lesions. J Am Acad Dermatol. 2002;47(3):436–438. doi:10.1067/mjd.2002.119670