口腔粘膜に症状を呈したRendu-Osler-Weber病の1例

抄録

Rendu-Osler-Weber disease (hereditary hemorrhagic telangiectasia) is a rare autosomal dominant disorder characterized by abnormal subepithelial vessels in the skin or the respiratory or gastrointestinal mucosa. We report a case of Rendu-Osler-Weber disease with manifestations in the oral mucosa. A 56-year-old woman visited Hokkaido University Dental Hospital because of blood oozing from the maxillary gingiva. Frequent epistaxis was included in her medical history. The patient's father and brother had died of cerebral hemorrhage, and her father and grandmother had suffered from freqent epistaxis. Telangiectases were observed on the skin of the neck. Many angiomatoid lesions were observed on the lower lip, tongue, and buccal mucosa. Histologically, a number of blood vessels were seen in the subepithelial layer of a biopsy specimen of a gingival lesion. The vessels were dilated and were covered with flattened endothelial cells. The clinical and histologic findings were consistent with the diagnosis of Rendu-Osler-Weber disease.