333 - EDAR Mutation Ectodermal Dysplasia: A Case Report

Friday, May 24, 2024

3:45 PM – 3:55 PM EST

Location: Exhibit Hall (back left corner of the hall, space 137)

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Presenting Author(s)

Tiffanie Brown, DDS (she/her/hers)

Pediatric Dental Resident
Howard University, Washington, D.C.
Howard University
Washington, District of Columbia, United States

Research Mentor(s)

SG

Stephen Grimm, DDS

Howard University
Washington, District of Columbia, United States

Program Director(s)

LB

LaToya Barham, DDS, FAAPD, FICD

Program Director
Howard University
Washington, District of Columbia, United States

Abstract:

Introduction:

Ectodermal Dysplasia is a term used to classify a group of heterogeneous disorders regarding their genetic causes and clinical phenotypes. Typically, Ectodermal Dysplasia are described by a triad of findings involving the skin, teeth, and appendages including hair, nails, and glands. Literature estimates at least one hundred and seventeen separate syndromes that make up the ectodermal group, which are classically considered to be an X-linked or autosomal recessive condition. Given the route of inheritance, males can present with the complete pattern of the syndrome and females are the carrier. However, spontaneous gene mutation is possible and may occur in a family without any previous history of the syndrome. This report will present an atypical case of ectodermal dysplasia.

Methods: A twelve year-old African-American female presents to the clinic with a chief complaint of having permanent teeth that never erupted. A clinical examination, panoramic radiographs and model casts were completed. Although the patient did not present with the traditional triad of findings for Ectodermal Dysplasia, genetics counseling and testing were completed to determine a definitive diagnosis.

Results: Clinical exam revealed and panoramic radiograph confirmed that teeth numbers 7,9,10,23-26 were missing. Invitae Ectodermal Dysplasia and Related Disorders Panel revealed the patient was positive for a EDAR gene mutation. Treatment rendered was fixed prosthetic appliances in both arches.

Conclusion: Through history, assessment and genetic testing dental professionals will be able to provide a proper diagnosis to help guide patients’ interim and future treatment who present with atypical Ectodermal Dysplasia.

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