International Journal of Clinical Pediatric Dentistry

Register      Login

VOLUME 5 , ISSUE 3 ( September-December, 2012 ) > List of Articles


Ectodermal Dysplasia: A Genetic Review

Seema Deshmukh

Keywords : Ectodermal dysplasia, Anodontia, Hypodontia, Hypohidrosis, Hypotrichosis, EDA gene, EDAR gene

Citation Information : Deshmukh S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5 (3):197-202.

DOI: 10.5005/jp-journals-10005-1165

License: CC BY-NC 4.0

Published Online: 01-12-2018

Copyright Statement:  Copyright © 2012; The Author(s).


Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. It is a genetic disorder affecting the development or function of the teeth, hair, nails and sweat glands. Depending on the particular syndrome ectodermal dysplasia can also affect the skin, the lens or retina of the eye, parts of the inner ear, the development of fingers and toes, the nerves and other parts of the body. Each syndrome usually involves a different combination of symptoms, which can range from mild to severe. The history and lessons learned from hypohidrotic ectodermal dysplasia (HED) may serve as an example for unraveling of the cause and pathogenesis of other ectodermal dysplasia syndromes by demonstrating that phenotypically identical syndromes can be caused by mutations in different genes (EDA, EDAR, EDARADD), that mutations in the same gene can lead to different phenotypes and that mutations in the genes further downstream in the same signaling pathway (NEMO) may modify the phenotype quite profoundly. The aim of this paper is to describe and discuss the etiology, genetic review, clinical manifestations and treatment options of this hereditary disorder. How to cite this article: Deshmukh S, Prashanth S. Ectodermal Dysplasia: A Genetic Review. Int J Clin Pediatr Dent 2012; 5(3):197-202.

PDF Share
  1. Mues GI (Department of Biomedical Sciences, Texas A&M Health Science Center, Baylor College of Dentistry, 3302 Gaston Avenue, Dallas, TX 75246, USA), Griggs R, Hartung AJ, Whelan G, Best LG, Srivastava AK, D'Souza R. From ectodermal dysplasia to selective tooth agenesis. Am J Med Genet Part A 2009 Sep;149A(9):2037-2041.
  2. Gopinath VK (Department of Pedodontics, Meenakshi Ammal Dental College, Chennai., Manoj KM, Mahesh K. Hypohidrotic ectodermal dysplasia: a case report. J Indian Soc Pedod Prev Dent 1999 Sep;17(3):90-92.
  3. Hall, KR. Pediatric orofacial medicine and pathology. 4th ed. London: Chapman and Hall; 1994. 163 p.
  4. Itthagarun A (Department of Children's Dentistry and Orthodontics, Faculty of Dentistry, University of Hong Kong), King NM. Ectodermal dysplasia: A review and case report. Quintessence Int 1997 Sep;28(9):595-602.
  5. Suprabha BS (Department of Pedodontics and Preventive Dentistry, College of Dental Surgery, Mangalore). Hereditary ectodermal dysplasia: A case report. J Indian Soc Pedod Prev Dent 2002 Mar;20(1):37-40.
  6. Bonilla ED (School of Dentistry, University of California-Los Angeles, USA., Guerra L, Luna O. Overdenture prosthesis for oral rehabilitation of hypohidrotic ectodermal dysplasia: A case report. Quintessence Int 1997 Oct;28(10):657-665.
  7. Gorlin, RJ.; Pindborg, JJ.; Cohen, MM. Syndromes of head and neck. 20th ed. New York: Mc Graw Hill; 1976. p. 379-385.
  8. Kupietzky A (Department of Pediatric Dentistry, UMDNJNew Jersey Dental School, Newark 07103-2400, USA), Houpt M. Hypohidrotic ectodermal dysplasia: Characteristics and treatment. Quintessence Int 1995 Apr;26(4):285-291.
  9. Wright, JT.; Grange, DK.; Ritcher, MK. Hypohidrotic ectodermal dysplasia. Gene Reviews. NCBI BookShelf. Updated 2009.
  10. Finn SB. Clinical pedodontics. 3rd ed. Philadelphia: Saunders; 1967.
  11. Oliver RD, Fye WN, Halin JA, Steiner JF. Prosthetic management in anhidrotic ectodermal dysplasia: report of case. J Dent Children 1975;43:375-378.
  12. Tarjan I (Department of Pediatric Dentistry and Orthodontics, Semmelweis University, Budapest, Hungary. tarjan@fok., Gabris K, Rozsa N. Early prosthetic treatment of patients with ectodermal dysplasia: A clinical report. J Prosthet Dent 2005 May;93(5):419-424.
  13. Lexner MO (Department of Pediatric Dentistry and Clinical Genetics, University of Copenhagen, Copenhagen, N, Denmark., Bardow A, Juncker I, Jensen LG, Almer L, Kreiborg S, Hertz JM. X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. Clin Genet 2008 Sep;74(3):252-259.
  14. Franchi L (Department of Orthodontics, University of Florence), Branchi R, Tollaro I. Craniofacial changes following early prosthetic treatment in a case of hypohidrotic ectodermal dysplasia with complete anodontia. ASDC J Dent Child 1998 Mar-Apr;65(2):116-121.
  15. Pabst HF, Groth O, McCoy EE. Hypohidrotic ectodermal dysplasia with hypothyroidism. J Pediatr 1981 Feb;98(2):223- 227.
  16. Kargül B (Department of Pediatric Dentistry, Dental School, Marmara University, Istanbul, Turkey. b.kargul.ped@marun., Alcan T, Kabalay U, Atasu M. Hypohidrotic ectodermal dysplasia: Dental, clinical, genetic and dermatoglyphic findings of three cases. J Clin Pediatr Dent 2001 Fall;26(1):5-12.
  17. Ohno K (Tsurumi University School of Dental Medicine, Department of Pediatric Dentistry, Yokohama, Japan), Ohmori I. Anodontia with hypohidrotic ectodermal dysplasia in a young female: A case report. Pediatr Dent 2000 Jan-Feb;22(1):49-52.
  18. Paschos E (Department of Restorative Dentistry, Periodontology, and Pedodontics, Dental School of the University of Munich, Germany), Huth KC, Hickel R. Clinical management of hypohidrotic ectodermal dysplasia with anodontia: Case report. J Clin Pediatr Dent 2002 Fall;27(1):5-8.
  19. Cronin RJ Jr (Department of Prosthodontics, University of Texas, Health Science Center at San Antonio, USA), Oesterle LJ. Implant use in growing patients. Treatment planning concerns. Dent Clin North Am 1998 Jan;42(1):1-34.
  20. Guckes AD (Patient Care and Clinical Investigations Section, National Institute of Dental Research, National Institutes of Health, Bethesda, MD 20892), Brahim JS, McCarthy GR, Rudy SF, Cooper LF. Using endosseous dental implants for patients with ectodermal dysplasia. J Am Dent Assoc 1991 Oct;122(10):59-62.
  21. Hickey AJ (Maine Medical Center, USA., Salter M. Prosthodontic and psychological factors in treating patients with congenital and craniofacial defects. J Prosthet Dent 2006 May;95(5):392-396.
  22. Kramer FJ (Department of Oral and Maxillofacial Surgery, Georg-August-University of Goettingen, Goettingen Germany., Baethge C, Tschernitschek H. Implants in children with ectodermal dysplasia: a case report and literature review. Clin Oral Implants Res 2007 Feb;18(1):140-146.
  23. Clauss F (Department of Pediatric Dentistry, Louis Pasteur University, National French Reference Center for Dental Manifestations of Rare Diseases, University Hospital, place de l'Hôpital, F-67000 Strasbourg, France. francois.clauss@chrustrasbourg. fr), Manière MC, Obry F, Waltmann E, Hadj-Rabia S, Bodemer C, Alembik Y, Lesot H, Schmittbuhl M. Dentocraniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): A review. J Dent Res 2008 Dec;87(12):1089-1099.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.