Abstract
BACKGROUND: Keratitis-ichthyosis-deafness syndrome is a rare congenital disorder resulting from mutations in the GJB2 gene located on chromosome 13. It is classified among the ectodermal dysplasias, a group of conditions that affect structures derived from the ectoderm. While oral and dental anomalies are frequently reported, hypodontia (congenitally missing teeth) has only been mentioned in two prior cases. The most recent classification of ectodermal dysplasias does not yet include hypodontia as a recognized feature of keratitis-ichthyosis-deafness syndrome. CASE PRESENTATION: A 6-year-old girl of Swedish descent was referred for evaluation owing to bleeding gums and oral discomfort. Clinical examination revealed dry, cracked lips, inflamed oral mucosa and gingiva, carious primary teeth, and multiple missing permanent teeth. Treatment was performed under general anesthesia, and the patient was placed on a bi-monthly follow-up schedule. After 2 years, her oral health had significantly improved. CONCLUSION: Missing teeth are commonly observed in ectodermal dysplasias. This case adds to the growing evidence that hypodontia may be a feature of keratitis-ichthyosis-deafness syndrome and supports its inclusion in future classifications. It also highlights the importance of specialized dental care, ideally provided by pediatric dental professionals.