Case Report: A 5-Year-Old with an Ischemic Digit

Marta Michalska-Smith, MD, is a first-year rheumatology fellow at The George Washington University, Washington, D.C. She completed her residency training in Medicine-Pediatrics at the University of Minnesota.

Colleen K. Correll, MD, MPH, is an assistant professor in the Division of Pediatric Rheumatology at the University of Minnesota. Her area of research focus is in epidemiology of juvenile idiopathic arthritis.

References

1. Abdel-Salam GMH, El-Kamah GY, Rice GI, et al. Chilblains as a diagnostic sign of Aicardi-Goutières syndrome. Neuropediatrics. 2010;41(1):18–23.
2. Fragoulis GE, McInnes IB, Siebert S. JAK-inhibitors. New players in the field of immune-mediated diseases, beyond rheumatoid arthritis. Rheumatology. 2019;58(Suppl 1):i43–i54.
3. Kolivras A, Aeby A, Crow YJ, et al. Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus. J Cutan Pathol. 2008 Aug;35(8):774–778.
4. Meesilpavikkai K, Dik WA, Schrijver B, et al. Efficacy of baricitinib in the treatment of chilblains associated with Aicardi‐Goutières syndrome, a type I interferonopathy. Arthritis Rheumatol. 2019 May;71(5):829–831.
5. Prendiville JS, Crow YJ. Blue (or purple) toes: Chilblains or chilblain lupus-like lesions are a manifestation of Aicardi–Goutières syndrome and familial chilblain lupus. J Am Acad Dermatol. 2009;61(4):727–728.
6. ontealegre Sanchez GA, Reinhardt A, Ramsey S, et al. JAK1/2 inhibition with baricitinib in the treatment of autoinflammatory interferonopathies. J Clin Invest. 2018 Jul 2;128(7):3041–3052.
7. Vanderver A, Adang L, Gavazzi F, et al. Janus kinase inhibition in the Aicardi–Goutières syndrome. N Engl J Med. 2020 Sep 3;383(10):986–989.
8. Yarbrough K, Danko C, Krol A, et al. The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. Am J Med Genet A. 2016 Dec;170(12):3308–3312.