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Piebaldism Clinical Presentation

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 21, 2016
 

History

Graft versus host disease may arise solely within an area affected by piebaldism; therefore, piebaldism-affected skin may be immunologically different from normal skin.[14]

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Physical

The white forelock is evident in 80-90% of those affected. Both hair and skin in the central frontal scalp are permanently white from birth or when hair color first becomes apparent. Regression of the white forelock has been described.[15] The forelock and white skin may have a triangular shape.

The eyebrow and eyelash hair may also be affected, either continuously or discontinuously with the forelock.

White spots may be observed on the face, trunk, and extremities and tend to be symmetrical in distribution and irregular in shape. They represent a focal lack of melanocytes. This depigmented skin may show a narrow border of hyperpigmentation or island of pigmentation and has white hair that is otherwise normal emanating from it.

White patches of hair may be located other than frontally in some patients. The only pigmentation change of skin or hair may be a white forelock in some patients.

Congenital leukoderma suggests the need for evaluation of ocular, auditory, and/or neurologic abnormalities.[16]

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Causes

Piebaldism is a rare autosomal dominant genetic disorder.

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Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Michael D Fox, MD Attending Physician, Department of Emergency Medicine, Marin General Hospital

Michael D Fox, MD is a member of the following medical societies: American Academy of Emergency Medicine, American Geriatrics Society, American Academy of Family Physicians, California Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Albert C Yan, MD Section Chief, Associate Professor, Department of Pediatrics, Section of Dermatology, Children's Hospital of Philadelphia and University of Pennsylvania School of Medicine

Albert C Yan, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology, Society for Pediatric Dermatology, American Academy of Pediatrics

Disclosure: Nothing to disclose.

References
  1. 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. [Medline].

  2. 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. [Medline].

  3. 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. [Medline].

  4. Spritz RA. "Out, damned spot!". J Invest Dermatol. 2006 May. 126(5):949-51. [Medline].

  5. 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. [Medline].

  6. 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. [Medline].

  7. Murakami T, Fukai K, Oiso N. New KIT mutations in patients with piebaldism. J Dermatol Sci. 2004 Jun. 35(1):29-33. [Medline].

  8. 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. [Medline].

  9. 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. [Medline].

  10. 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. [Medline].

  11. 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. [Medline].

  12. 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. [Medline]. [Full Text].

  13. 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. [Medline].

  14. 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. [Medline].

  15. 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. [Medline].

  16. Grob A, Grekin S. Piebaldism in children. Cutis. 2016 Feb. 97 (2):90-2. [Medline].

  17. Desch LW. White forelock could be early sign of tuberous sclerosis. Arch Pediatr Adolesc Med. 1996 Jun. 150(6):651-2. [Medline].

  18. 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. [Medline].

  19. 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. [Medline].

  20. 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. [Medline].

  21. Spritz R. Letter: Misdiagnosis of "neurofibromatosis" in patients with piebaldism. Dermatol Online J. 2011 Nov 15. 17(11):13. [Medline].

  22. 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. [Medline].

  23. Sleiman R, Kurban M, Succaria F, Abbas O. Poliosis circumscripta: Overview and underlying causes. J Am Acad Dermatol. 2013 Jul 12. [Medline].

  24. Park SY, Kim HJ, Ahn SK. Piebaldism with neurofibromatosis type I: a familial case. Ann Dermatol. 2014 Apr. 26(2):264-6. [Medline]. [Full Text].

  25. 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. [Medline].

  26. Garg T, Khaitan BK, Manchanda Y. Autologous punch grafting for repigmentation in piebaldism. J Dermatol. 2003 Nov. 30(11):849-50. [Medline].

  27. 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. [Medline].

  28. 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. [Medline].

  29. 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. [Medline].

  30. Thomas I, Kihiczak GG, Fox MD, Janniger CK, Schwartz RA. Piebaldism: an update. Int J Dermatol. 2004 Oct. 43(10):716-9. [Medline].

 
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Distinguished physician with mark of distinction, a white forelock that his father and grandfather also shared.
 
 
 
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