Ezoe K, Holmes SA, Ho L, et al. Novel mutations and deletions of the KIT (steel factor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan. 56(1):58-66. [QxMD MEDLINE Link].
Richards KA, Fukai K, Oiso N, Paller AS. A novel KIT mutation results in piebaldism with progressive depigmentation. J Am Acad Dermatol. 2001 Feb. 44(2):288-92. [QxMD MEDLINE Link].
Tosaki H, Kunisada T, Motohashi T, Aoki H, Yoshida H, Kitajima Y. Mice transgenic for Kit(V620A): recapitulation of piebaldism but not progressive depigmentation seen in humans with this mutation. J Invest Dermatol. 2006 May. 126(5):1111-8. [QxMD MEDLINE Link].
Spritz RA. "Out, damned spot!". J Invest Dermatol. 2006 May. 126(5):949-51. [QxMD MEDLINE Link].
Nagatani K, Okamura K, Katagiri K, Ono R, Nishigori C, Araki Y, et al. Report of two Japanese patients with piebaldism including a novel mutation in KIT. J Dermatol. 2021 Feb. 48 (2):e94-e95. [QxMD MEDLINE Link].
Jan IA, Stroedter L, Haq AU, Din ZU. Association of Shah-Waardenburgh syndrome: a review of 6 cases. J Pediatr Surg. 2008 Apr. 43(4):744-7. [QxMD MEDLINE Link].
Yu Y, Liu W, Chen M, Yang Y, Yang Y, Hong E, et al. Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome. Mol Genet Genomic Med. 2020 Mar 13. e1217. [QxMD MEDLINE Link].
Funkhouser CH, Kinsler VA, Frieden IJ. Striking contiguous depigmentation across the lower limbs in piebaldism and its implications for understanding melanocytic migration and development. Pediatr Dermatol. 2019 Apr 14. [QxMD MEDLINE Link].
Nomura K, Hatayama I, Narita T, Kaneko T, Shiraishi M. A novel KIT gene missense mutation in a Japanese family with piebaldism. J Invest Dermatol. 1998 Aug. 111(2):337-8. [QxMD MEDLINE Link].
Murakami T, Fukai K, Oiso N. New KIT mutations in patients with piebaldism. J Dermatol Sci. 2004 Jun. 35(1):29-33. [QxMD MEDLINE Link].
Kerkeni E, Boubaker S, Sfar S, Bizid M, Besbes H, Bouaziz S, et al. Molecular characterization of piebaldism in a Tunisian family. Pathol Biol (Paris). 2015 Jun. 63 (3):113-6. [QxMD MEDLINE Link].
Xu XH, Ma L, Weng L, Xing H. A novel mutation of KIT gene results in piebaldism in a Chinese family. J Eur Acad Dermatol Venereol. 2014 Sep 8. [QxMD MEDLINE Link].
Zheng Y, Liu F, Yang Y, Liang Y. Novel KIT Missense Mutation P665S in a Chinese Piebaldism Family. Ann Dermatol. 2017 Dec. 29 (6):801-803. [QxMD MEDLINE Link].
Ruan HB, Zhang N, Gao X. Identification of a novel point mutation of mouse proto-oncogene c-kit through N-ethyl-N-nitrosourea mutagenesis. Genetics. 2005 Feb. 169(2):819-31. [QxMD MEDLINE Link].
Fontanesi L, Scotti E, Russo V. Haplotype variability in the bovine MITF gene and association with piebaldism in Holstein and Simmental cattle breeds. Anim Genet. 2012 Jun. 43(3):250-6. [QxMD MEDLINE Link].
Yang YJ, Zhao R, He XY, Li LP, Wang KW, Zhao L, et al. A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family. Biomed Res Int. 2013. 2013:689756. [QxMD MEDLINE Link]. [Full Text].
Dougoud M, Mazza C, Schwaller B, Pecze L. Extending the Mathematical Palette for Developmental Pattern Formation: Piebaldism. Bull Math Biol. 2019 May. 81 (5):1461-1478. [QxMD MEDLINE Link].
Frances L, Betlloch I, Leiva-Salinas M, Silvestre JF. Spontaneous repigmentation in an infant with piebaldism. Int J Dermatol. 2015 Jun. 54 (6):e244-6. [QxMD MEDLINE Link].
Chow RK, Stewart WD, Ho VC. Graft-versus-host reaction affecting lesional skin but not normal skin in a patient with piebaldism. Br J Dermatol. 1996 Jan. 134(1):134-7. [QxMD MEDLINE Link].
Matsunaga H, Tanioka M, Utani A, Miyachi Y. Familial case of piebaldism with regression of white forelock. Clin Exp Dermatol. 2008 Jul. 33(4):511-2. [QxMD MEDLINE Link].
Grob A, Grekin S. Piebaldism in children. Cutis. 2016 Feb. 97 (2):90-2. [QxMD MEDLINE Link].
Desch LW. White forelock could be early sign of tuberous sclerosis. Arch Pediatr Adolesc Med. 1996 Jun. 150(6):651-2. [QxMD MEDLINE Link].
Tamayo ML, Gelvez N, Rodriguez M, Florez S, Varon C, Medina D, et al. Screening program for Waardenburg syndrome in Colombia: clinical definition and phenotypic variability. Am J Med Genet A. 2008 Apr 15. 146A(8):1026-31. [QxMD MEDLINE Link].
Tammaro A, Parisella FR, Colapietra D, Romano I, Persechino S. A case of piebaldism in a two-year-old female infant. G Ital Dermatol Venereol. 2016 Apr. 107 (2):208-9. [QxMD MEDLINE Link].
Duarte AF, Mota A, Baudrier T, Morais P, Santos A, Cerqueira R, et al. Piebaldism and neurofibromatosis type 1: family report. Dermatol Online J. 2010 Jan 15. 16(1):11. [QxMD MEDLINE Link].
Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J. 2011 Nov 15. 17(11):13. [QxMD MEDLINE Link].
Stevens CA, Chiang PW, Messiaen LM. Café-au-lait macules and intertriginous freckling in piebaldism: Clinical overlap with neurofibromatosis type 1 and Legius syndrome. Am J Med Genet A. 2012 May. 158A(5):1195-9. [QxMD MEDLINE Link].
Sleiman R, Kurban M, Succaria F, Abbas O. Poliosis circumscripta: Overview and underlying causes. J Am Acad Dermatol. 2013 Jul 12. [QxMD MEDLINE Link].
Park SY, Kim HJ, Ahn SK. Piebaldism with neurofibromatosis type I: a familial case. Ann Dermatol. 2014 Apr. 26(2):264-6. [QxMD MEDLINE Link]. [Full Text].
Schepis C, Failla P, Siragusa M, Chiavetta V, Ruggeri G, Calì F. An interesting case of Piebaldism with cafè-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis. Eur J Dermatol. 2018 Feb 1. 28 (1):119-120. [QxMD MEDLINE Link].
Njoo MD, Nieuweboer-Krobotova L, Westerhof W. Repigmentation of leucodermic defects in piebaldism by dermabrasion and thin split-thickness skin grafting in combination with minigrafting. Br J Dermatol. 1998 Nov. 139(5):829-33. [QxMD MEDLINE Link].
Garg T, Khaitan BK, Manchanda Y. Autologous punch grafting for repigmentation in piebaldism. J Dermatol. 2003 Nov. 30(11):849-50. [QxMD MEDLINE Link].
Komen L, Vrijman C, Tjin EP, Krebbers G, de Rie MA, Luiten RM, et al. Autologous cell suspension transplantation using a cell extraction device in segmental vitiligo and piebaldism patients: A randomized controlled pilot study. J Am Acad Dermatol. 2015 Jul. 73 (1):170-2. [QxMD MEDLINE Link].
Goh BK, Chua XM, Chong KL, de Mil M, van Geel NA. Simplified cellular grafting for treatment of vitiligo and piebaldism: the "6-well plate" technique. Dermatol Surg. 2010 Feb. 36(2):203-7. [QxMD MEDLINE Link].
Falabella R, Barona M, Escobar C, Borrero I, Arrunategui A. Surgical combination therapy for vitiligo and piebaldism. Dermatol Surg. 1995 Oct. 21(10):852-7. [QxMD MEDLINE Link].
Lommerts JE, Meesters AA, Komen L, Bekkenk MW, de Rie MA, Luiten RM, et al. Autologous cell suspension grafting in segmental vitiligo and piebaldism: a randomised controlled trial comparing full-surface and fractional CO2 laser recipient site preparations. Br J Dermatol. 2017 Apr 12. [QxMD MEDLINE Link].
Narayan VS, van den Bol LLC, van Geel N, Bekkenk MW, Luiten RM, Wolkerstorfer A. Donor to recipient ratios in the surgical treatment of vitiligo and piebaldism: a systematic review. J Eur Acad Dermatol Venereol. 2021 Jan 11. [QxMD MEDLINE Link].
Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct. 43(10):716-9. [QxMD MEDLINE Link].
Chen YJ, Diao P, Wan RY, Li L. Piebaldism resulting from a novel deletion mutation of KIT gene in a five-generation Chinese family. Clin Exp Dermatol. 2022 Jan. 47 (1):232-234. [QxMD MEDLINE Link].