Alatyan Muzun H, Albahouth Hind S, Al Fahad Mogabh S, Alotaibi Lama A, Almutairi Ebtihal S, Almalky Hadeel A, Faden Asmaa A
Dentistry, King Saud University, Riyadh, SAU.
Cureus. 2024 Aug 20;16(8):e67273. doi: 10.7759/cureus.67273. eCollection 2024 Aug.
Behçet's syndrome is a complex chronic inflammatory disorder characterized by widespread inflammation of the blood vessels, affecting various systems in the body. Although its exact cause remains unknown, genetic predisposition, particularly HLA-B51/B5 gene carriage, and environmental factors are believed to play roles. The disease typically manifests in individuals aged 20-40 years, with an uncommon occurrence in children and elderly individuals. Key clinical manifestations include recurrent oral and genital ulcers, skin lesions, ocular involvement, positive pathergy test results, and other systemic symptoms. Eye involvement is common and can lead to severe visual impairment if left untreated. This diversity of Behçet's disease (BD) presentations and complications emphasizes the importance of early recognition and management. An eight-year-old girl presented with a deep painful ulcer in the mouth and a history of chronic constipation, severe joint pain, and recurrent mouth ulcers. Initial examination revealed an ulcer scar on the tongue and a deep ulcer on the left side of the mucobuccal fold. The patient was diagnosed with a recurrent major aphthous ulcer and prescribed Predo pediatric syrup as a mouthwash and paracetamol to relieve the pain. A biopsy was recommended by her physician to be done under general anesthesia and to rule out malignancy; the biopsy result revealed the presence of a benign squamous epithelium with reactive changes. The genetic result revealed HLA B*51 positivity and normal immunoglobulin levels. Treatment with colchicine led to the complete healing of the ulcer with scar formation after three months. This case report highlights the unique presentation of Behçet's syndrome in children and the challenges associated with its diagnosis. It emphasizes the importance of the early recognition and prompt management of BD in the pediatric population, in which disease progression can be more severe than in adult-onset cases. This case provides valuable insights into the clinical features of and diagnostic approach to Behçet's syndrome in children.
白塞病是一种复杂的慢性炎症性疾病,其特征是血管广泛炎症,影响身体的各个系统。尽管其确切病因尚不清楚,但遗传易感性,特别是 HLA - B51/B5 基因携带,以及环境因素被认为起作用。该疾病通常在 20 - 40 岁的个体中表现出来,在儿童和老年人中不常见。主要临床表现包括复发性口腔和生殖器溃疡、皮肤病变、眼部受累、针刺反应试验结果阳性以及其他全身症状。眼部受累很常见,如果不治疗可导致严重视力损害。白塞病(BD)表现和并发症的这种多样性强调了早期识别和管理的重要性。一名八岁女孩出现口腔深部疼痛性溃疡,并有慢性便秘、严重关节疼痛和复发性口腔溃疡病史。初步检查发现舌部有溃疡瘢痕,颊黏膜皱襞左侧有深部溃疡。患者被诊断为复发性重型阿弗他溃疡,并开了 Predo 小儿糖浆作为漱口水和对乙酰氨基酚以缓解疼痛。她的医生建议在全身麻醉下进行活检以排除恶性肿瘤;活检结果显示存在良性鳞状上皮伴有反应性改变。基因检测结果显示 HLA B*51 阳性,免疫球蛋白水平正常。使用秋水仙碱治疗三个月后溃疡完全愈合并形成瘢痕。本病例报告突出了白塞病在儿童中的独特表现以及与其诊断相关的挑战。它强调了在儿科人群中早期识别和及时管理 BD 的重要性,在儿科人群中疾病进展可能比成人发病病例更严重。该病例为儿童白塞病的临床特征和诊断方法提供了有价值的见解。