Stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI syndrome).

Fecha de publicación: 09/12/2024

Autores de IIS La Fe

• Miguel Saro Buendia

  Autor

• Miguel Mansilla Polo

  Autor

• Aynara Zamora Piñero

  Autor

• Miguel Armengot Carceller

  Autor

Grupos

• Biomedicina Molecular, Celular y Genómica

  

  Leader

  José María Millán Salvador

• Dermatología y Regeneración Tisular

  

  Leader

  Rafael Botella Estrada

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.