STING-associated vasculopathy with onset in infancy (SAVI) presenting with skin lesions.

STING-associated vasculopathy with onset in infancy (SAVI) is caused by pathogenic gain-of-function variants in the gene TMEM173 (also named stimulator of interferon genes, STING1). This report details the case of an 11-year-old girl with SAVI who presented with skin-limited symptoms and discusses the phenotype-genotype correlations of the TMEM173 variant present in our patient. Treatment of SAVI focuses on preventing the development or progression of organ damage by reducing systemic inflammation.

Cutaneous clues to diagnose autoinflammatory diseases.

Systemic autoinflammatory diseases (AIDs) are a group of disorders characterized by recurrent episodes of systemic inflammation. Suspecting the diagnosis can be difficult and many of the clinical manifestations are common to different diseases. Although most of the cutaneous manifestations are non-specific, it is important to know them because sometimes they can lead to the diagnosis.