Oral manifestations associated with inherited hyperhomocysteinemia: A first case description

Abstract Hyperhomocysteinemia is a rare disease caused by nutritional deficiencies or genetic impairment of cysteine metabolism. To date, no oral manifestations of hyperhomocysteinemia has been described in humans. Therefore, the current case presents the first description of a hyperhomocysteinemic patient showing oral tissue alterations leading to both early tooth loss and failed implant osseointegration. The patient presented a methylenetetrahydrofolate reductase gene mutation (677T polymorphism) leading to a mild hyperhomocysteinemia. The radiological analysis showed hyperdense lesions scattered in the maxillae. The histological observations indicated alterations in both collagen and elastic networks in the gingiva and dermis. Interestingly, the presence of ectopic mineralized inclusions was noted in both periodontal ligament and gingiva. Strong osteoclastic activity was associated with abnormal calcification of trabecular spaces. Uneven oral tissue remodeling due to high tissue levels of homocysteine could explain the pathological manifestations observed in this case.