戈尔茨综合征或局灶性真皮发育不全(FDH),是一种主要涉及皮肤的X连锁优势状况,四肢和眼睛。在耳鼻喉科,FDH的描述很差,但可能导致阻塞性睡眠呼吸暂停的症状增加,需要手术。也有记录的病例是先天性听骨异常继发的混合性严重听力损失。更频繁地,出现吞咽困难症状的耳鼻喉诊所的患者,继发于乳头状瘤病。一名36岁的妇女表现出疼痛,已知诊断为FDH的刺激和吞咽困难。随后她接受了食道-胃-十二指肠镜检查,钡吞下和增强MRI颈部扫描。在研究中发现了淋巴样增生,患者接受了CO2激光对病变的全内镜检查,临床效果良好。本案例报告强调了多学科团队参与的必要性,以确保充分考虑管理选择。
Goltz syndrome or focal dermal hypoplasia (FDH), is an X-linked dominant condition which predominantly involves the skin, limbs and eyes. In otolaryngology, FDH has been poorly described, but can result in increased symptoms of obstructive sleep apnoea requiring surgery. There have also been documented cases of mixed severe hearing loss secondary to congenital ossicular anomalies. More frequently, patients present to the ear-nose-throat clinic with symptoms of dysphagia, secondary to papillomatosis. A 36-year-old woman presented with pain, irritation and dysphagia with a known diagnosis of FDH. She was subsequently investigated with an oesophago-gastro-duodenoscopy, Barium Swallow and an MRI neck scan with contrast. Lymphoid hyperplasia was found on investigation and the patient underwent a panendoscopy with CO2 laser to the lesion with good clinical outcome. This
case report highlights the need for multidisciplinary team involvement to ensure full consideration of management options.