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Journal of the American Academy of Dermatology
Volume 74, n° 1
pages 186-189 (janvier 2016)
Doi : 10.1016/j.jaad.2015.10.007
Dermatology Grand Rounds at the NIH

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

Justin Chia, MD a, Fehime Kara Eroglu, MD, MS b, Seza Özen, MD b, Dicle Orhan, MD c, Gina Montealegre-Sanchez, MD, MS d, Adriana A. de Jesus, MD, PhD d, Raphaela Goldbach-Mansky, MD, MHSc d, Edward W. Cowen, MD, MHSc e,
a Division of Dermatology, Department of Medicine, University of Calgary, Calgary, Alberta, Canada 
b Department of Pediatric Rheumatology, Hacettepe University, Ankara, Turkey 
c Department of Pathology, Hacettepe University, Ankara, Turkey 
d Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 
e Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 

Reprint requests: Edward W. Cowen, MD, MHSc, Dermatology Branch, National Cancer Institute, 10 Center Dr, Bethesda, MD, 20892.
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.

The full text of this article is available in PDF format.

Key words : autoinflammation, autoinflammatory, gangrene, genodermatosis, inflammation, interferonopathy, interstitial lung disease, vasculitis

Abbreviations used : IFN, JAK, NIH, SAVI, STING



 Supported by the Intramural Program of National Institutes of Health (NIH), Center for Cancer Research, National Cancer Institute, and the National Human Genome Research Institute. Support for Dr Chia's elective rotation at the NIH came from the Canadian Dermatology Foundation Kalz Bursary.
 Conflicts of interest: None declared.
 Editor's note: Dr Goldbach-Mansky at the National Institutes of Health (NIH) is currently studying patients with autoinflammatory syndromes. Clinicians can refer interested patients to the NIH Patient Recruitment and Referral Office at 800-411-1222 or by e-mail to prpl@mail.cc.nih.gov.
 Dr Chia evaluated this patient during an elective rotation at the National Institutes of Health.



© 2015  Published by Elsevier Masson SAS.