(Last Updated On: December 13, 2018)
Authors: Bryan Edgar K. Guevara,MD, Maria Vinna N. Crisostomo,MD, Chao-Kai Hsu,MD, Lu Liu,MD, Maria Mercedes S. Cauilan, MD, FPDS and John A. McGrath, MD, FRCP, FMedSci

Abstract

X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder that affects the development and function of several structures of ectodermal origin, such as hair, teeth and sweat glands. It is associated with ectodysplasin-A (EDA) gene mutation, necessary for ectodermal development.
We present a case of two brothers who were referred to our clinic due to recurrent fever and rash. Prior to referral, patients had multiple admissions due to fever and underwent a series of tests to determine the cause of fever but to no avail. Upon examination, erythematous scaly papules and plaques on the extremities, alopecia, absence of dermatoglyphic patterns, and atypical facial features were noted. Skin biopsy revealed absence of eccrine glands. Genetic analysis revealed EDA mutation in exon 8 that resulted in a delayed termination codon rather than a premature termination codon, causing XLHED. This novel mutation has never been reported in the literature.

 

Citation

Guevara, BE, Crisostomo, MV, Hsu, CK, Liu, L, Cauilan, MM, & Mcgrath, JA. (2017). A novel mutation in the EDA gene in a Filipino family with X-linked hypohidrotic ectodermal dysplasia. Journal of the Philippine Dermatological Society, 26(1), 46-50.

 

Keywords

genodermatosis, molecular pathology

  1. Visinoni AF, Lisboa-Costa T, Pagnan NA, ChautardoFreire-Maia EA. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet A. 2009; 149A: 1980–2002.
  2. Cluzeau C, Hadj-Rabia S, Jambou M, Mansour S, Guigue P, Masmoudi S, et al. Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat; 2011; 32: 70–72.
  3. Mortier K, Wackens G. Ectodermal dysplasia syndrome. Orphanet encyclopedia. 2004
  4. Philippine Dermatological Society Health Information System. Philippine Dermatological Society. c2011. 2011-2014; cited July 18,2016. Available by request from: pdshist@outlook.com
  5. Mikkola ML. Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet A. 2009; 149A: 2031–2036.
  6. Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. Am J Hum Genet. 1998; 63: 380–389.
  7. Swee LK, Ingold-Salamin K, Tardivel A, Willen L, Gailde O, Favre M et al. Biological activity of ectodysplasin A is conditioned by its collagen and heparan sulfate proteoglycan-binding domains. J Biol Chem. 2009; 284: 27567–27576.
  8. Hashiguchi T, Yotsumoto S, Kanzaki T. Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia. Exp Dermatol. 2003; 12: 518–522.
  9. Zonana J, Clarke A, Sarfarazi M, Thomas NS, Roberts K, Marymee K. X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet. 1988; 43: 75–85.
  10. Mues G, Griggs R, Hartung AJ, Whelan G, Best LG, Srivastava AK et al. From ectodermal dysplasia to selective tooth agenesis. Am J Med Genet A. 2009; 149A(9): 2037–2041.
  11. Wright JT., Grange DK., Ritcher MK. Hypohidrotic ectodermal dysplasia. Gene Reviews. NCBI BookShelf. Updated. 2009
  12. Wiśniewski SA, Kobielak A, Trzeciak WH, Kobielak K. Recent advances in understanding of the molecular basis of anhidrotic ectodermal dysplasia: discovery of a ligand, ectodysplasin A and its two receptors. J Appl Genet. 2002; 43(1): 97–107.
  13. Nieminen P. Genetic basis of tooth agenesis. J Exp Zool B Mol Dev Evol. 2009; 312B: 320–334.
  14. Itthagarun A, King NM. Ectodermal dysplasia: a review and case report.Quintessence Int. 1997; 28(9):595-602.
  15. Clarke A, Phillips DI, Brown R, Harper PS. Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child. 1987; 62(10):989-96.
  16. Favre M, Paradies F, Demotz S, Gaide O, Schneider P. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet. 2007 Nov; 81(5):1050-6.
  17. Bonilla ED, Guerra L, Luna O. Overdenture prosthesis for oral rehabilitation of hypohidrotic ectodermal dysplasia: a case report. Quintessence Int. 1997; 28(10):657-65.

More Articles

A randomized, double-blind, comparative study on the safety and efficacy of virgin coconut (Cocos nucifera l.) oil against 1% hydrocortisone lotion as an anti-inflammatory and antipruritic preparation for mosquito reactions

  Authors: Uy, Veronica S, MD; Gracia B. Teodosio, MD, FPDS; Ma. Teresita G. Gabriel, MD, FPDS; Mary Catherine T. Galang, MD; Mohammad Yoga A. Waskito, MD; Johannes F. Dayrit, MD, FPDS     Abstract Background: Virgin coconut oil (VCO) has been reported...

read more