Beshay Lauren H
Endocrinology, David Geffen School of Medicine, University of California, Los Angeles (UCLA), Los Angeles, USA.
Cureus. 2025 May 30;17(5):e85100. doi: 10.7759/cureus.85100. eCollection 2025 May.
Worth syndrome, also known as autosomal dominant osteosclerosis and high bone mineral density, is a rare disease caused by a gain-of-function mutation of the low-density lipoprotein receptor-related protein 5 (LRP5) gene leading to endosteal hyperostosis. It is characterized by increased bone density and benign bony structures on the palate, known as torus palatinus. The skeleton is normal in childhood, but facial metamorphoses occur in adolescence, as the mandible becomes elongated and the forehead flattens. Torus palatinus can lead to loss of teeth or malocclusion. We present the case of an 18-year-old female patient found to have a heterozygous variant of the LRP5 mutation on genetic testing. Given the rarity of this disease, long-term sequelae and treatment options are not fully understood.
沃思综合征，也称为常染色体显性遗传性骨硬化症和高骨矿物质密度，是一种由低密度脂蛋白受体相关蛋白5（LRP5）基因功能获得性突变引起的罕见疾病，可导致骨内膜增生。其特征是骨密度增加以及上腭出现良性骨质结构，即腭隆突。儿童期骨骼正常，但青春期会出现面部变形，如下颌骨变长、前额变平。腭隆突可导致牙齿脱落或咬合不正。我们报告了一名18岁女性患者的病例，该患者在基因检测中发现LRP5突变的杂合变异。鉴于这种疾病的罕见性，其长期后遗症和治疗选择尚未完全明确。
