Trichothiodystrophy Identified in a Child with an Odontogenic Infection

Trichothiodystrophy (TTD) is a rare genetic disorder with a high mortality rate among pediatric patients, primarily as a result of related infections. Its defining clinical feature is brittle, dry hair, with broken hair shafts revealing "tiger-tail banding". Other common characteristics include photosensitivity, scaly skin and stunted growth. The disorder's rarity and variety of symptoms pose diagnostic challenges, yet early diagnosis and treatment can improve a patient's overall health and quality of life. The purpose of this report is to describe the case of an underweight five-year-old boy with brittle hair and scaly skin who presented to an emergency room with an active odontogenic infection and was incidentally diagnosed with TTD following genetic testing. This case illustrates the importance of evaluating patients comprehensively, while addressing their chief complaint. It also showcases the importance of involving providers across health professions in diagnosing and managing TTD and other genetic disorders in pediatric patients.