485 - Oral Lesion Diagnosis for Patient with Dyskeratosis Congenita

Introduction: Dyskeratosis Congenita is a rare genetic syndrome caused by mutations in TERT, TERC, DKC1, or TINF2 genes resulting in dysfunction of the telomerase. It leads to impaired maintenance of telomeres and reduced telomere length which is crucial in cell division. Clinically, the syndrome can manifest as cutaneous hyperpigmentation, nail dystrophy, oral leukoplakia, pancytopenia, aplastic anemia, leukemia, and solid tumors. Oral manifestations can result in dental abnormalities and oral leukoplakia.

Case Report: This presentation discusses a 9-year-old male patient who was referred to the Pediatric Dentistry Clinic, the University of Puerto Rico with a chief complaint of needing an oral prophylaxis because of excessive bleeding due to leukoplakia. The mother of the patient reports patient visits a pediatric dentist every 6 months, brushes teeth twice a day, do not floss, and frequent snacking. This 9-year-old current medical history is a diagnosis of Dyskeratosis Congenita (DCK1 linked), and anxiety. Current medications include magic mouth wash containing nystatin. The patient has no reported drug allergies. Clinical examination revealed easily bleeding lesions on the tongue, nutrition concerns, nail malformations, and multiple dental restorations. Radiographic findings revealed clear sinuses, late mixed dentition, and tooth #32 bud present. A 4mm punch biopsy procedure was done under local anesthesia and sent for histological examination. This report will include clinical and histological findings associated with Dyskeratosis Congenita, differential diagnoses, and treatment rendered to our patient.