LetterBlue (or purple) toes: Chilblains or chilblain lupus-like lesions are a manifestation of Aicardi–Goutières syndrome and familial chilblain lupus
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Cited by (18)
Idiopathic systemic capillary leak syndrome, a unique complement and interferon mediated endotheliopathy syndrome: The role of the normal skin biopsy in establishing the diagnosis and elucidating pathogenetic mechanisms
2022, Annals of Diagnostic PathologyCitation Excerpt :Enhanced interferon signaling may contribute to the variable perivascular lymphocytic infiltrate seen in these seemingly normal skin biopsies in patients with capillary leak syndrome. In all of the aforesaid interferon endotheliopathy syndromes, the endothelial cell injury and vascular inflammation can result in ischemia as evidenced by the pattern of vascular drop out with ensuing fibroplasia observed in the skin in both dermatomyositis and Kohlmeier-Degos disease, the progressive loss of brain substance attributable to a necrotizing lymphocytic vasculitis that characterizes Aicardi-Goutières syndrome, and the painful edematous purpuric papular nodular lesions reflective of lymphocytic vasculitis encountered on the toes and fingers observed in patients with idiopathic perniosis and COVID-19 associated perniosis [21-27]. The potential role of interferon alpha in enhancing endothelial cell vasopermeability was first described by Puri and Rosenberg in their paper entitled “The Combined Effects of Interferon Alpha and Interleukin 2 on the Induction of a Vascular Leak Syndrome in Mice.”
Autoinflammatory Diseases in Pediatric Dermatology–Part 2: Histiocytic, Macrophage Activation, and Vasculitis Syndromes
2017, Actas Dermo-SifiliograficasDiagnostic Pathology: Nonneoplastic Dermatopathology
2016, Diagnostic Pathology: Nonneoplastic DermatopathologyOther Vasculitis
2015, Textbook of Pediatric RheumatologyMendelian Disorders of Immunity Related to an Upregulation of Type I Interferon
2014, Stiehm's Immune DeficienciesThe arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers
2014, Journal of Biological Chemistry
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