A Case of Long-Term Management of Oral Function in a Child with Dyskeratosis Congenita

Background and Clinical Significance: Dyskeratosis congenita (DC) is a rare inherited disorder classified as a telomere biology disorder and characterized by multisystem involvement, including bone marrow failure and mucocutaneous abnormalities. Oral manifestations such as leukoplakia, increased susceptibility to infection, and abnormal dental development have been reported; however, detailed descriptions of long-term oral functional management in pediatric patients remain limited. This report aims to describe the longitudinal oral management and imaging-based assessment of dental development in a child with DC and to discuss the clinical implications in the context of existing literature. Case Presentation: A female patient diagnosed with dyskeratosis congenita due to a heterozygous TINF2 mutation was followed from early childhood. She underwent hematopoietic stem-cell transplantation at five years of age and later required lung and liver transplantation. Long-term oral management included regular professional oral care, preventive strategies, and periodic imaging evaluation. Panoramic radiographs obtained over several years demonstrated generalized delayed eruption and incomplete root formation relative to chronological age, with apparent early arrest of root elongation. Discussion: This case highlights the potential association between telomere dysfunction, intensive systemic therapy in early childhood, and arrested odontogenesis. These findings suggest a possible association between telomere dysfunction, early intensive systemic therapy, and impaired root formation. Despite severe systemic disease, continuous preventive oral care and imaging-based monitoring were effective in maintaining oral health and detecting mucosal changes. Conclusions: Long-term preventive oral management combined with noninvasive imaging assessment may play an important role in preserving oral function and monitoring dental development in pediatric patients with dyskeratosis congenita. This case adds to the limited literature on longitudinal oral outcomes in this rare disorder.