Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair.
genetic conditions
References
Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of geneticdisorders of hypopigmentation: lessons learned from the biology of melanocytes.Exp Dermatol. 2009 Sep;18(9):741-9. doi: 10.1111/j.1600-0625.2009.00896.x.
Ezoe K, Holmes SA, Ho L, Bennett CP, Bolognia JL, Brueton L, Burn J, FalabellaR, Gatto EM, Ishii N, et al. Novel mutations and deletions of the KIT (steelfactor receptor) gene in human piebaldism. Am J Hum Genet. 1995 Jan;56(1):58-66.
López V, Jordá E. Piebaldism in a 2-year-old girl. Dermatol Online J. 2011 Feb15;17(2):13. Review.
Spritz RA, Giebel LB, Holmes SA. Dominant negative and loss of functionmutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism. Am J Hum Genet. 1992 Feb;50(2):261-9.
Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994Nov;103(5 Suppl):137S-140S. Review.
Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders ofmelanocyte development. Semin Cutan Med Surg. 1997 Mar;16(1):15-23. Review.
Sánchez-Martín M, Pérez-Losada J, Rodríguez-García A, González-Sánchez B, KorfBR, Kuster W, Moss C, Spritz RA, Sánchez-García I. Deletion of the SLUG (SNAI2)gene results in human piebaldism. Am J Med Genet A. 2003 Oct 1;122A(2):125-32.
Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: anupdate. Int J Dermatol. 2004 Oct;43(10):716-9. Review.
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