People's Journal of Scientific Research
Published June 13, 2024 | Version 1
Journal Open

Ectodermal Dysplasia – A Case Report and Comprehensive Literature Review

Creators

Contributors

  • 1. Department of Oral Medicine and Radiology, Vinayaka Mission's Sankarachariyar Dental College,Vinayaka Mission's Research Foundation (DU), Salem, (Tamilnadu).

Description

ABSTRACT: 
Ectodermal dysplasia (ED) is a rare genetic condition characterized by a variety of deformities in 
ectodermal  derivatives.  Skin,  nails,  hair,  teeth,  and  exocrine  glands  are  derived  from  ectodermal 
germinal layers during the development of an embryo. ED has been reported in more than 150 variants 
in  the  literature. An  average  of  seven  cases  are  reported  for  every  100,000  live  births.  anhidrotic 
(Hypohidrotic) and hydrotic ED are the two types based on the degree of function of sweat glands.  A 
42-year-old male with characteristic features of ectodermal dysplasia visited our dental department and 
was treated with complete denture prosthesis described in this case report.

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Additional details

Dates

Accepted
2024-05-26

References

  • • Chappidi V, Voulligonda D, Bhogavaram B, Reddy P: Ectodermal dysplasia: Report of two cases in a family and literature review. J Family Med Prim Care. 2019, 8:1263-65. 10.4103%2Fjfmpc.jfmpc_48_19 (Pubmed), https://doi.org/10.4103/jfmpc.jfmpc_48_19 • Meshram G, Kaur N, Hura K: A case report of hypohidrotic ectodermal dysplasia a mini-review with latest updates. J Family Med Prim Care. 2018, 7:264-66. 10.4103%2Fjfmpc.jfmpc_20_17 (Pubmed), https://doi.org/10.4103/jfmpc.jfmpc_20_17 • Peled A, Sarig O, Samuelov L etal.: Mutations in TSPEAR, encoding a regulator of Notch signaling, affect tooth and hair follicle morphogenesis. PLoS Genet. 2016, 12:1-17. 10.1371/journal.pgen.1006369 (Pubmed), https://doi.org/10.1371/journal.pgen.1006369 • Bowles B, Ferrer A, Nishimura CJ etal.: TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: a novel cohort study. Am J Med Genet A. 2021, 185:2417-33. 10.1002/ajmg.a.62347 (Pumed), https://doi.org/10.1002/ajmg.a.62347 • Majmundar VD, Baxi K: Ectodermal dysplasia. StatPearls [Internet], Tampa,Florida,United States; 2022. https://www.ncbi.nlm.nih.gov/books/NBK563130/.(Pumed) • Bergendal B: Oligodontia ectodermal dysplasia-on signs, symptoms, genetics, and outcomes of dental treatment. Swed Dent J Suppl. 2010, 13:7-8. https://pubmed.ncbi.nlm.nih.gov/20626136/ (Pubmed) • Yildirim M, Yorgancilar E, Gun R, Topcu I.: Ectodermal dysplasia: Otolaryngologic evaluation of 23 cases. Ear Nose Throat J. 2012, 91:E29-33. 10.1177/014556131209100221 (Pubmed), https://doi.org/10.1177/014556131209100221 • Wright JT, Grange DK, Fete M: Hypohidrotic ectodermal dysplasia.. Adam MP,Mirzaa GM,Pagon RA (ed): GeneReviews® [Internet], Seattle (WA); 2022. https://www.ncbi.nlm.nih.gov/books/NBK1112/. (Pubmed) • Freire-Maia N: Ectodermal dysplasias revisited. Acta Genet Med Gemellol (Roma. 1977, 26:121-31. 10.1017/s0001566000009910 (Pubmed), https://doi.org/10.1017/s0001566000009910 • Wright JT, Fete M, Schneider H etal: Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway. Am J Med Genet A. 2019, 179:442-47. 10.1002/ajmg.a.61045 (Pubmed), https://doi.org/10.1002/ajmg.a.61045 • Deshmukh S, Prashanth S: Ectodermal dysplasia: A genetic review. Int J Clin Pediatr Dent. 2012, 5:197-202. 10.5005/jp-journals-10005-1165 (Pubmed), https://doi.org/10.5005/jp-journals-10005-1165 • Schnutenhaus S, Götz W, Luthardt RG: Prosthetic rehabilitation of a patient with cleidocranial dysplasia using dental implants—a clinical report. Int J Implant Dent. 2021, 22:1-9. 10.1186/s40729-020-00287-7 (Pubmed), https://doi.org/10.1186/s40729-020-00287-7 • Schweikl C, Maier-Wohlfart S, Schneider H, Park J: Ectodysplasin A1 deficiency leads to osteopetrosis-like changes in bones of the skull associated with diminished osteoclastic activity. Int J Mol Sci. 2022, 13:1-17. 10.3390/ijms232012189 (Pubmed), https://doi.org/10.3390/ijms232012189 • Alajami H, Saker J: Rehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted overdenture: a case report. Clin Case Rep. 2021, 9:1-7. 10.1002/ccr3.5206 (Pubmed), https://doi.org/10.1002/ccr3.5206 • Ahmed O, Bolger JC, O'Neill B, Robb WB: Use of esophageal stents to relieve dysphagia during neoadjuvant therapy prior to esophageal resection: a systematic review. Dis Esophagus. 2020, 16:1-8. 10.1093/dote/doz090 (Pubmed), https://doi.org/10.1093/dote/doz090 • Liu H, Su L, Liu H etal: Rare X-linked hypohidrotic ectodermal dysplasia in females associated with ectodysplasin-A variants and the X-chromosome inactivation pattern. Diagnostics . 2022, 23:1-12. 10.3390/diagnostics12102300(Pubmed), https://doi.org/10.3390/diagnostics12102300 • Alshegifi HA, Alamoudi AM, Alrougi A, Alshaikh H, Alamri A, Shawli AM. : Ectodermal dysplasia: A case report. Cureus. 2022, 12:1-5. 10.7759/cureus.21184(Pubmed), https://doi.org/10.7759/cureus.21184 • Schneider Holm: Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders. Fron.Gent. 2022, 13:1-7. 10.3389/fgene.2022.1000744(Pubmed), https://doi.org/10.3389/fgene.2022.1000744 • Körber I, Klein OD, Morhart P et al.: Safety and immunogenicity of FC-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects. Br J Clin Pharmacol. 2020, 86:2063-69. 10.1111/bcp.14301 (Pubmed), https://doi.org/10.1111/bcp.14301