Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK
Oral and Maxillofacial Surgery, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.
BMJ Case Rep. 2021 Aug 3;14(8):e241530. doi: 10.1136/bcr-2020-241530.
Stüve-Wiedemann syndrome (SWS) is a rare, autosomal recessive disorder, causing dysautonomia and multisystem failure. Symptoms include skeletal malformations, restricted joint mobility and desensitisation to pain. Patients with SWS presenting with intraoral lesions are extremely rare and this is probably due to their shortened lifespan. We present a case of a 9-month-old patient who presented to our Oral and Maxillofacial Surgery (OMFS)Unit with a chronic inflamed ulcer affecting the tongue, secondary to trauma from erupting central incisors. We believe that depapillation in conjunction with an increased pain threshold contributed to its development. The patient was successfully treated by extraction of the lower central incisors and intralesional steroid injections under general anaesthetic. This case highlights that patients with SWS can present to the OMFS clinician with oral lesions and that they can be safely managed under general anaesthesia.
斯蒂夫-威德曼综合征（SWS）是一种罕见的常染色体隐性遗传病，可导致自主神经功能紊乱和多系统衰竭。其症状包括骨骼畸形、关节活动受限以及对疼痛脱敏。患有 SWS 的患者出现口腔内病变极为罕见，这可能是由于其寿命较短。我们报告了一例 9 个月大的患者，因中切牙萌出导致的创伤，其口腔内出现慢性炎症性溃疡，该患者到我们口腔颌面外科（OMFS）就诊。我们认为，去角化联合疼痛阈值升高促成了该病变的发生。通过全身麻醉下拔除下颌中切牙和病变内皮质类固醇注射，成功治疗了该患者。该病例提示，SWS 患者可向 OMFS 临床医生表现出口腔病变，并且可在全身麻醉下安全管理。
