Congenital Patterned Leukodermas Treatment & Management

1. Boissy RE. Melanosome transfer to and translocation in the keratinocyte. Exp Dermatol. 2003. 12 Suppl 2:5-12. [QxMD MEDLINE Link].

2. Boissy RE, Nordlund JJ. Molecular basis of congenital hypopigmentary disorders in humans: a review. Pigment Cell Res. 1997 Feb-Apr. 10(1-2):12-24. [QxMD MEDLINE Link].

3. Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010 Apr. 31(4):391-406. [QxMD MEDLINE Link].

4. Samatha Y, Vardhan TH, Kiran AR, Sankar AJ, Ramakrishna B. Familial Crouzon syndrome. Contemp Clin Dent. 2010 Oct. 1(4):277-80. [QxMD MEDLINE Link]. [Full Text].

5. Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet. 2004 Nov 15. 131C(1):75-81. [QxMD MEDLINE Link].

6. Drozniewska M, Haus O. PAX3 gene deletion detected by microarray analysis in a girl with hearing loss. Mol Cytogenet. 2014. 7:30. [QxMD MEDLINE Link]. [Full Text].

7. Yang YJ, Zhao R, He XY, Li LP, Chen W, Wang KW, et al. SNAI2 mutation causes human piebaldism. Am J Med Genet A. 2014 Mar. 164A(3):855-7. [QxMD MEDLINE Link].

8. Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, et al. Waardenburg syndrome: Novel mutations in a large Brazilian sample. Eur J Med Genet. 2018 Jan 31. [QxMD MEDLINE Link].

9. Trabelsi M, Nouira M, Maazoul F, Kraoua L, Meddeb R, Ouertani I, et al. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. Int J Pediatr Otorhinolaryngol. 2017 Dec. 103:14-19. [QxMD MEDLINE Link].

10. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009 Sep. 18(9):741-9. [QxMD MEDLINE Link].

11. Hornyak TJ. The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation. Adv Dermatol. 2006. 22:201-18. [QxMD MEDLINE Link].

12. Tachibana M. A cascade of genes related to Waardenburg syndrome. J Investig Dermatol Symp Proc. 1999 Sep. 4(2):126-9. [QxMD MEDLINE Link].

13. Tassabehji M, Read AP, Newton VE, et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature. 1992 Feb 13. 355(6361):635-6. [QxMD MEDLINE Link].

14. Wang XP, Liu YL, Mei LY, He CF, Niu ZJ, Sun J, et al. Wnt signaling pathway involvement in genotypic and phenotypic variations in Waardenburg syndrome type 2 with MITF mutations. J Hum Genet. 2018 Mar 12. [QxMD MEDLINE Link].

15. Tassabehji M, Newton VE, Read AP. Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene. Nat Genet. 1994 Nov. 8(3):251-5. [QxMD MEDLINE Link].

16. Mollaaghababa R, Pavan WJ. The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia. Oncogene. 2003 May 19. 22(20):3024-34. [QxMD MEDLINE Link].

17. Moore SW. The contribution of associated congenital anomalies in understanding Hirschsprung's disease. Pediatr Surg Int. 2006 Apr. 22(4):305-15. [QxMD MEDLINE Link].

18. Park WJ, Meyers GA, Li X, et al. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet. 1995 Jul. 4(7):1229-33. [QxMD MEDLINE Link].

19. Park WJ, Theda C, Maestri NE, et al. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet. 1995 Aug. 57(2):321-8. [QxMD MEDLINE Link].

20. 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 Oct 1. 88(19):8696-9. [QxMD MEDLINE Link]. [Full Text].

21. 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].

22. Hemati P, du Souich C, Boerkoel CF. 4q12-4q21.21 deletion genotype-phenotype correlation and the absence of piebaldism in presence of KIT haploinsufficiency. Am J Med Genet A. 2015 Jan. 167A (1):231-7. [QxMD MEDLINE Link].

23. Sólia-Nasser L, de Aquino SN, Paranaíba LM, Gomes A, Dos-Santos-Neto P, Coletta RD, et al. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family. Med Oral Patol Oral Cir Bucal. 2016 May 1. 21 (3):e321-7. [QxMD MEDLINE Link].

24. Shields CL, Nickerson SJ, Al-Dahmash S, Shields JA. Waardenburg syndrome: iris and choroidal hypopigmentation: findings on anterior and posterior segment imaging. JAMA Ophthalmol. 2013 Sep. 131(9):1167-73. [QxMD MEDLINE Link].

25. Kontorinis G, Goetz F, Lanfermann H, Luytenski S, Giesemann AM. Inner ear anatomy in Waardenburg syndrome: Radiological assessment and comparison with normative data. Int J Pediatr Otorhinolaryngol. 2014 Aug. 78(8):1320-6. [QxMD MEDLINE Link].

26. Harvey I, Brown S, Ayres O, Proudman T. The apert hand-angiographic planning of a single-stage, 5-digit release for all classes of deformity. J Hand Surg Am. 2012 Jan. 37(1):152-8. [QxMD MEDLINE Link].

27. Soanca A, Dudea D, Gocan H, Roman A, Culic B. Oral manifestations in Apert syndrome: case presentation and a brief review of the literature. Rom J Morphol Embryol. 2010. 51(3):581-4. [QxMD MEDLINE Link].

28. Ettinger N, Williams M, Phillips JA 3rd. Variable expressivity and clinical heterogeneity can complicate the diagnosis and management of Pfeiffer syndrome. J Craniofac Surg. 2013 Sep. 24(5):1829-32. [QxMD MEDLINE Link].

Raymond E Boissy, PhD Director of Basic Science Research, Professor, Departments of Dermatology and Cell Biology, University of Cincinnati College of Medicine

Raymond E Boissy, PhD is a member of the following medical societies: Sigma Xi

Disclosure: Nothing to disclose.

Steven Hoath, MD Director of Skin Sciences Institute, Professor of Pediatrics, Department of Pediatrics, University of Cincinnati College of Medicine

Disclosure: Nothing to disclose.

Michael J Wells, MD, FAAD Dermatologic/Mohs Surgeon, The Surgery Center at Plano Dermatology

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Received income in an amount equal to or greater than $250 from: Elsevier; WebMD.

Kathryn Schwarzenberger, MD Associate Professor of Medicine, Division of Dermatology, University of Vermont College of Medicine; Consulting Staff, Division of Dermatology, Fletcher Allen Health Care

Kathryn Schwarzenberger, MD is a member of the following medical societies: Women's Dermatologic Society, American Contact Dermatitis Society, Medical Dermatology Society, Dermatology Foundation, Alpha Omega Alpha, American Academy of Dermatology

Disclosure: Nothing to disclose.

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