Failure to thrive, interstitial lung disease, and progressive digital necrosis with onset in infancy

J Am Acad Dermatol. 2016 Jan;74(1):186-9. doi: 10.1016/j.jaad.2015.10.007. Epub 2015 Nov 14.

Abstract

Key teaching points • SAVI is a recently described interferonopathy resulting from constitutive action of STING and up-regulation of IFN-β signaling. • SAVI is characterized by facial erythema with telangiectasia, acral/cold-sensitive tissue ulceration and amputations, and interstitial lung disease. It has overlapping features with Aicardi-Goutières syndrome and familial chilblain lupus. • Traditional immunosuppressive medications and biologic therapies appear to be of limited benefit, but JAK inhibitors may impact disease progression.

Keywords: autoinflammation; autoinflammatory; gangrene; genodermatosis; inflammation; interferonopathy; interstitial lung disease; vasculitis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • Autoimmune Diseases / diagnosis*
  • Autoimmune Diseases / genetics
  • Disease Progression
  • Failure to Thrive
  • Fingers / pathology
  • Humans
  • Interferon Type I / genetics*
  • Lung Diseases, Interstitial / diagnosis*
  • Lung Diseases, Interstitial / genetics
  • Male
  • Necrosis / diagnosis
  • Rare Diseases
  • Skin Diseases, Vascular / diagnosis*
  • Skin Diseases, Vascular / genetics
  • Syndrome
  • Toes / pathology

Substances

  • Interferon Type I