Title : Unusual presentation of a rare disease in a patient with special healthcare needs: Scurvy
Abstract:
Objective: Vitamin C (ascorbic acid), an essential nutrient for humans and other primates, is crucial in collagen synthesis, immune function, and antioxidant defence. Severely insufficient levels of vitamin C can disrupt these processes, resulting in the nutritional deficiency syndrome scurvy. Scurvy impacts multiple organ systems and is characterized by compromised connective tissue synthesis. Experimental Methods: A recent scurvy case report with literature review. Clinical images were obtained as part of the standard of care for the patient and retrospectively collected along with deidentified case-related material. Results: 4-year-old female patient with autism presented with diffuse linear and granular ulcerative lesions limited to the maxillary alveolus and palate. A thorough work-up and an incisional biopsy were conducted. Histopathological examination of the maxillary mucosal lesions was consistent with granulomatous inflammation, which mandated ruling out a list of granulomatous conditions that may present in the oral cavity, such as Crohn disease. This further delayed reaching a definitive diagnosis until blood analysis revealed vitamin C deficiency (value <5, with a normal range 23-114 mcmol/L) , suggestive of an unusual oral presentation of scurvy. The patient received vitamin C supplementation (500mg/ 15mL liquid by mouth daily) and responded favorability with blood analysis demonstrating levels within a normal range 11-weeks after commencing supplementation. At 18-weeks post-supplementation, oral lesions revealed resolution of the oral lesions.
Conclusion: In the United States, scurvy is considered a rare diagnosis and is typically only seen in patients with underlying conditions and restrictive diets, such as inner-city infants. Presentation may consist of oral manifestations such as gingival swelling, bleeding, petechiae, and systemic symptoms like fatigue, irritability, skin discoloration, impaired wound healing and joint pain. However, the presence of granulomatous inflammation on biopsy and involvement limited to the maxillary alveolus presentation are atypical for scurvy, and when encountered, may delay the diagnosis. The patient responding favorably to vitamin C supplementation, further confirming the diagnosis. We theorize that the granulomatous inflammation encounter on biopsy could be attributed to a sarcoid-like response secondary to vitamin C deficiency-mediated immune dysfunction. The maxilla is certainly more porous with more marrow and vascularity possibly explaining limited maxillary involvement. Furthermore, neurological and developmental disorders pose additional challenges related to patient-management. In pediatric populations, scurvy can significantly impact on the quality of life and, if untreated, lead to severe complications affecting life expectancy. Understanding the relationship between vitamin C deficiency, its clinical manifestations and the need for interdisciplinary healthcare collaboration is crucial for accurate diagnosis and effective management.
