Management Of Hypophosphatemic Rickets With Oral Manifestations In Children

Hypophosphatemic rickets (HR) is a metabolic disorder affecting bone and teeth. X-linked hypophosphatemic rickets (XLH) is the most common form, characterized by skeletal deformities and dental mineralization defects leading to pulpitis and early tooth loss. Early diagnosis and preventive interventions are crucial for maintaining oral health in affected children. A 4-year-old male with HR presented with premature tooth loss. Clinical examination revealed multiple missing primary teeth, abscess formation, and abnormal mobility. Radiographic findings showed enlarged pulp chambers and periapical inflammation. Whole-exome sequencing confirmed gene mutations associated with rickets. Under general anesthesia, dental treatment included root canal therapy for affected teeth, resin crowns for anterior teeth, and stainless steel crowns for molars. Preventive stainless steel crowns were placed on asymptomatic teeth, and non-restorable teeth were extracted. A five-year follow-up showed prolonged survival of root canal-treated teeth, though some with preventive stainless steel crowns later developed periapical inflammation. This case highlights the need for early diagnosis and comprehensive management of HR-related dental manifestations. Despite preventive interventions, periapical inflammation developed in some crowned teeth, suggesting coronal sealing alone may not fully prevent pulp infections. The case aligns with prior research linking genetic mutations to HR-related dental abnormalities. A multidisciplinary approach involving early diagnosis, genetic evaluation, and comprehensive dental care is essential for optimal oral health outcomes in HR patients. The findings highlight the limitations of preventive stainless steel crowns and emphasize the need for improved long-term management strategies.