Saro-Buendía M, Mansilla-Polo M, García-Piñero A, Armengot-Carceller M
Servicio de Otorrinolaringología, Hospital Universitario y Politécnico La Fe, Valencia, Spain; Departamento de Cirugia, Facultat de Medicina i Odontologia, Universitat de València, Valencia, Spain.
Servicio de Dermatología, Hospital Universitario y Politécnico La Fe, Valencia, Spain; Instituto de Investigación Sanitaria (IIS) La Fe, Valencia, Spain.
Eur Ann Otorhinolaryngol Head Neck Dis. 2025 Sep;142(5):244-246. doi: 10.1016/j.anorl.2024.11.008. Epub 2024 Dec 9.
To document through a case report the ENT manifestations of the STING-associated vasculopathy with onset in infancy (SAVI) syndrome, remarking their value to achieve the diagnosis.
A man in his forties presented with exercise-related dyspnoea and cold-exacerbated painful lesions over the nasal tip, cheeks, ears, and feet since his early childhood. The ENT manifestations included cartilaginous necrosis (both auricles and nasal tip) and a 1-cm anterior septal perforation. A familiar inheritance pattern was evident and genetic studies confirmed the diagnosis of a SAVI syndrome. Therapy with JAK inhibitors was implemented, resulting in a favorable response.
SAVI syndrome is a recently described disease with recognizable otolaryngologic manifestations that may be key to clinical suspicion and genetic diagnosis.
通过病例报告记录婴儿期起病的STING相关血管病（SAVI）综合征的耳鼻喉科表现，强调其对诊断的价值。
一名四十多岁男性自幼出现与运动相关的呼吸困难，鼻尖、脸颊、耳部和足部有遇冷加重的疼痛性病变。耳鼻喉科表现包括软骨坏死（双耳廓和鼻尖）和1厘米的鼻中隔前部穿孔。明显存在家族遗传模式，基因研究确诊为SAVI综合征。采用JAK抑制剂治疗，效果良好。
SAVI综合征是一种最近描述的疾病，具有可识别的耳鼻喉科表现，这可能是临床怀疑和基因诊断的关键。
