Degos disease: A C5b-9/interferon-a-mediated endotheliopathy syndrome

Yanick Crow, Cynthia M. Magro, Jonathan C. Poe, Connie Kim, Lee Shapiro, Gerard Nuovo, Mary K. Crow, Yanick J. Crow

    Research output: Contribution to journalArticlepeer-review


    Degos disease is a lethal small vessel angiopathy targeting the skin, gastrointestinal tract, and central nervous system, potentially developing in the setting of known autoimmune disease, although forme fruste primary variants exist. Its pathogenetic basis is unknown. Four cases of Degos disease were encountered in archival material, representing 2 men, ages 38 and 43 years, and 2 females, ages 48 and 2 years; 3 patients died of disease. All had characteristic skin lesions with gastrointestinal involvement; other affected organs included brain in one and pericardium and pleura in another. Skin biopsies showed pauciinflammatory thrombogenic microangiopathy with endothelial cell injury. Extracutaneous organs demonstrated fibromucinous occlusive arteriopathy. Prominent vascular C5b-9 was seen in the skin, gastrointestinal tract, and brain. All cases had evidence of high expression of interferon-a (based on tissue expression of MXA, a type I interferon-inducible protein), endothelial tubuloreticular inclusions, and an interferon gene signature in peripheral blood mononuclear cells. The MXA expression paralleled the pattern of C5b-9 deposition. Degos disease is a distinct vascular injury syndrome whereby a dysregulated interferon-a response in concert with membranolytic attack complex deposition may contribute to the unique vascular changes. Understanding the pathophysiology of the disease process could lead to more directed therapies, including terminal complement inhibition with agents such as eculizumab. © American Society for Clinical Pathology.
    Original languageEnglish
    Pages (from-to)599-610
    Number of pages11
    JournalAmerican journal of clinical pathology
    Issue number4
    Publication statusPublished - Apr 2011


    • Angiopathy
    • Autoimmune disease
    • Central nervous system
    • Degos disease
    • Gastrointestinal tract
    • Skin


    Dive into the research topics of 'Degos disease: A C5b-9/interferon-a-mediated endotheliopathy syndrome'. Together they form a unique fingerprint.

    Cite this