M Saro-Buendía, M Mansilla-Polo, A García-Piñero, M Armengot-Carceller
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引用次数: 0
Abstract
Introduction: 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.
Case summary: 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.
Discussion: SAVI syndrome is a recently described disease with recognizable otolaryngologic manifestations that may be key to clinical suspicion and genetic diagnosis.
期刊介绍：
European Annals of Oto-rhino-laryngology, Head and Neck diseases heir of one of the oldest otorhinolaryngology journals in Europe is the official organ of the French Society of Otorhinolaryngology (SFORL) and the the International Francophone Society of Otorhinolaryngology (SIFORL). Today six annual issues provide original peer reviewed clinical and research articles, epidemiological studies, new methodological clinical approaches and review articles giving most up-to-date insights in all areas of otology, laryngology rhinology, head and neck surgery. The European Annals also publish the SFORL guidelines and recommendations.The journal is a unique two-armed publication: the European Annals (ANORL) is an English language well referenced online journal (e-only) whereas the Annales Françaises d’ORL (AFORL), mail-order paper and online edition in French language are aimed at the French-speaking community. French language teams must submit their articles in French to the AFORL site.
Federating journal in its field, the European Annals has an Editorial board of experts with international reputation that allow to make an important contribution to communication on new research data and clinical practice by publishing high-quality articles.
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