Hypohidrotic Ectodermal Dysplasia/ Christ-Siemens-Touraine Syndrome: A case report

Authors

  • Zahra Arooba Department of Dermatology Unit II, King Edward Medical University/ Mayo Hospital Lahore.
  • Maida Ulfat Department of Dermatology Unit II, King Edward Medical University/ Mayo Hospital Lahore.
  • Shahbaz Aman Department of Dermatology Unit II, King Edward Medical University/ Mayo Hospital Lahore.

Keywords:

Hypohidrosis, Hypodontia, Hypotrichosis, Multidisciplinary approach

Abstract

Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous inherited disorder resulting from faulty development of ectodermal structures. It is clinically characterized by the classical triad of hypohidrosis, hypodontia and hypotrichosis. We report a case of 13 years old boy who presented with chief complaints of hypohidrosis and heat intolerance that were particularly troublesome in summer months. Detailed evaluations revealed numerous cutaneous and extracutaneous manifestations of the syndrome. After a clinical diagnosis, patient was managed with a multidisciplinary approach which resulted in remarkable improvement in his quality of life.

References

Meshram GG, Kaur N, Hura KS. A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates. J Family Med Prim Care. 2018;7(1):264.

Reyes‐Reali J, Mendoza‐Ramos MI, Garrido‐Guerrero E, Méndez‐Catalá CF, Méndez‐Cruz AR, Pozo‐Molina G. Hypohidrotic ectodermal dysplasia: clinical and molecular review. Int J Dermatol. 2018;57(8):965-72.

Trzeciak WH, Koczorowski R. Molecular basis of hypohidrotic ectodermal dysplasia: an update. J Appl Genet. 2016;57:51-61.

Mark BJ, Becker BA, Halloran DR, Bree AF, Sindwani R, Fete MD, Motil KJ, Srun SW, Fete TJ. Prevalence of atopic disorders and immunodeficiency in patients with ectodermal dysplasia syndromes. Ann Allergy Asthma Immunol. 2012;108(6):435-8.

Wohlfart S, Meiller R, Hammersen J, Park J, Menzel-Severing J, Melichar VO, Huttner K, Johnson R, Porte F, Schneider H. Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study. Orphanet J Rare Dis. 2020;15:1-1.

Courtois G. Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency (HED-ID). Genetic Syndromes: A Comprehensive Reference Guide. 2020:1-3

Chokshi A, Chokshi K, Chokshi R, Mhambrey S. Ectodermal dysplasia: a review. Int J Oral Health Med Res. 2015;2(1):101-4.

Shanker V, Gupta M. Dermatopathia pigmentosa reticularis: A rare reticulate pigmentary disorder. Indian Dermatol Online J. 2013;4(1):40.

Bildik T, Ozbaran B, Kose S, Koturoglu G, Gokce B, Gunaydin A, Altintas I. Hypohidrotic ectodermal dysplasia: a multidisciplinary approach. Int J Psychiatry Med. 2012;44(3):225-40.

Downloads

Published

2024-05-06

How to Cite

1.
Arooba Z, Ulfat M, Aman S. Hypohidrotic Ectodermal Dysplasia/ Christ-Siemens-Touraine Syndrome: A case report. J Pak Assoc Dermatol [Internet]. 2024May6 [cited 2024Nov.11];34(1):306-10. Available from: https://jpad.com.pk/index.php/jpad/article/view/2752

Issue

Section

Case Reports

Similar Articles

You may also start an advanced similarity search for this article.

Most read articles by the same author(s)

<< < 1 2 3 4 5 6 > >>