Piebaldism: A case report and a concise review of the literature

Cutis

Volumn 80, Issue 5, 2007, Pages 411-414

  Janjua, Shahbaz A ^a   Khachemoune, Amor ^b,e   Guldbakke, Kjetil Kristoffer ^c,d  

^a Ayza Skin and Research Center   (Pakistan)

^b SUNY DOWNSTATE MEDICAL CENTER   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d TRONDHEIM UNIVERSITY HOSPITAL   (Norway)

^e Downstate Health Sciences University   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHILD; FEMALE; HUMAN; PIEBALDISM;

CHILD; FEMALE; HUMANS; PIEBALDISM;

EID: 37049003730     PISSN: 00114162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. 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;88:8696-8699.
2. Spritz RA. Molecular basis of human piebaldism. J Invest Dermatol. 1994;103(suppl 5):137S-140S.
3. Ward KA, Moss C, Sanders DS. Human piebaldism: relationship between phenotype and site of kit gene mutation. Br J Dermatol. 1995;132:929-935.
4. Thomas I, Kihiczak GG, Fox MD, et al. Piebaldism: an update. Int J Dermatol. 2004:43:716-719.
5. Fukai K, Hamada T, Ishii M, et al. Acquired pigmented macules in human piebald lesions, ultrastructure of melanocytes in hypomelanotic skin. Acta Derm Venereol. 1989;69:524-527.
6. Richards KA, Fukai K, Oiso N, et al. A novel KIT mutation results in piebaldism with progressive depigmentation. J Am Acad Dermatol. 2001;44:288-292.
7. Mahakrishnan A, Srinivasan MS. Piebaldness with Hirschsprung's disease. Arch Dermatol. 1980;116:1102.
8. Angelo C, Cianchini G, Grosso MG, et al. Association of piebaldism and neurofibromatosis type 1 in a girl. Pediatr Dermatol. 2001;18:490-493.
9. Koklu S, Ertugrul D, Onat AM, et al. Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS). Am J Hematol. 2002;69:210-213.
10. Costa LD, Fixler J, Berets O, et al. Piebaldism in diamond-blackfan anaemia: a new phenotype? Br J Haematol. 2002;119:572.
11. Kiwan RA, Mutasim DF. Grover disease (transient acantholytic dermatosis) and piebaldism. Cutis. 2002;69:451-453.
12. Spritz RA, Beighton P. Piebaldism with deafness: molecular evidence for an expanded syndrome. Am J Med Genet. 1998;75:101-103.
13. Fleischman RA, Saltman DL, Stastny V, et al. Deletion of the c-kit protooncogene in the human developmental defect piebald trait. Proc Natl Acad Sci U S A. 1991;88:10885-10889.
14. 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;56:58-66.
15. Sanchez-Martin M, Perez-Losada J, Rodriguez-Garcia A, et al. Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A. 2003;122:125-132.
16. Waardenburg PJ. A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness. Am J Hum Genet. 1951;3:195-253.
17. Ziprkowski L, Krakowski A, Adam A, et al. Partial albinism and deaf-mutism due to a recessive sex-linked gene. Arch Dermatol. 1962;86:530-539.
18. Woolf CM. Albinism among Indians in Arizona and New Mexico. Am J Hum Genet. 1965;17:23-35.
19. Suga Y, Ikejima A, Matsuba S, et al. Medical pearl: DHA application for camouflaging segmental vitiligo and piebald lesions. J Am Acad Dermatol. 2002;47:436-438.
20. Falabella R, Barona M, Escobar C, et al. Surgical combination therapy for vitiligo and piebaldism. Dermatol Surg. 1995:21:852-857.
21. 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;139:829-833.
22. Guerra L, Primavera G, Raskovic D, et al. Permanent repigmentation of piebaldism by erbium:YAG laser and autologous cultured epidermis. Br J Dermatol. 2004;150:715-721.