Congenital Patterned Leukodermas: Follow-up

References

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

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

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

4. Hornyak TJ. The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation. Adv Dermatol. 2006;22:201-18. [Medline].

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

6. 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. Feb 13 1992;355(6361):635-6. [Medline].

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

8. 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. May 19 2003;22(20):3024-34. [Medline].

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

10. 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. Jul 1995;4(7):1229-33. [Medline].

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

12. 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. Oct 1 1991;88(19):8696-9. [Medline].

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

14. Mollet I, Ongenae K, Naeyaert JM. Origin, clinical presentation, and diagnosis of hypomelanotic skin disorders. Dermatol Clin. Jul 2007;25(3):363-71, ix. [Medline].

15. Puffenberger EG, Kauffman ER, Bolk S, et al. Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22. Hum Mol Genet. Aug 1994;3(8):1217-25. [Medline].

16. Read AP, Newton VE. Waardenburg syndrome. J Med Genet. Aug 1997;34(8):656-65. [Medline].

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

Further Reading

Keywords

congenital patterned leukodermas, congenital patterned leukoderma, Waardenburg syndrome, Apert syndrome, Pfeiffer syndrome, Jackson-Weiss syndrome, Crouzon syndrome, Hirschsprung syndrome, piebaldism, congenital hypopigmentary diseases, pigment cells, melanocytes, embryogenesis, gene, band 2q35-q37.3, microphthalmia transcription factor gene, gene, band 3p12, fibroblast growth factor receptor-2 gene, gene, band 10q25-q26, fibroblast growth factor receptor-1 gene, gene, band 8p11.2-12, endothelin-B receptor gene, gene, band 13q22, gene, band 4q12

Contributor Information and Disclosures

Author

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: University of Cincinnati None None

Coauthor(s)

Steven Hoath, MD, Director of Skin Sciences Institute, Adjunct Professor, Department of Pediatrics, University of Cincinnati College of Medicine
Disclosure: Nothing to disclose.

Medical Editor

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: Alpha Omega Alpha, American Academy of Dermatology, American Contact Dermatitis Society, American Dermatological Association, Dermatology Foundation, Medical Dermatology Society, and Women's Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Joel M Gelfand, MD, MSCE, Medical Director, Clinical Studies Unit, Assistant Professor, Department of Dermatology, Associate Scholar, Center for Clinical Epidemiology and Biostatistics, University of Pennsylvania
Joel M Gelfand, MD, MSCE is a member of the following medical societies: Society for Investigative Dermatology
Disclosure: AMGEN Consulting fee Consulting; AMGEN Grant/research funds None; Genentech Consulting fee Consulting; Centocor Consulting fee Consulting; Centocor Grant/research funds None; Covance Consulting fee Consulting; Shire  Consulting

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.