Oral manifestations associated with inherited hyperhomocysteinemia: A first case description.

Bachar Husseini, Edgard Nehme, Karim Senni, Claude Sader Ghorra, Khalil Younes, Sandrine Roffino, Pierre Ghorra, Sylvie Changotade, Ronald Younes

Oral surgery, oral medicine, oral pathology and oral radiology 2022 May

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Hyperhomocysteinemia is a rare disease caused by nutritional deficiencies or genetic impairment of cysteine metabolism. To date, no oral manifestations of hyperhomocysteinemia have been described in humans. Therefore, to our knowledge, the present case report is the first description of a hyperhomocysteinemic patient showing oral tissue alterations leading to both early tooth loss and failed implant osseointegration. The patient presented with a methylenetetrahydrofolate reductase gene mutation (677T polymorphism) leading to mild hyperhomocysteinemia. The radiologic analysis showed hyperdense lesions scattered in the maxillae. The histologic 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 pathologic manifestations observed in this case. Copyright © 2021 Elsevier Inc. All rights reserved.

Citation

Bachar Husseini, Edgard Nehme, Karim Senni, Claude Sader Ghorra, Khalil Younes, Sandrine Roffino, Pierre Ghorra, Sylvie Changotade, Ronald Younes. Oral manifestations associated with inherited hyperhomocysteinemia: A first case description. Oral surgery, oral medicine, oral pathology and oral radiology. 2022 May;133(5):e105-e112