Stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI syndrome) - 10/12/24
, M. Mansilla-Polo c, d, A. García-Piñero a, M. Armengot-Carceller a, b, d, eAbstract |
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.
Le texte complet de cet article est disponible en PDF.Keywords : SAVI syndrome, STING-associated vasculopathy with onset in infancy, Otolaryngologic manifestations, Septal perforation, Case report
Plan
Bienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?