Degos Disease: A C5B-9 and Interferon Alpha Mediated Small Vessel Injury Syndrome.
Cynthia M Magro, Jonathan C Poe, Mary K Crow, Lee Shapiro, Gerard Nuovo, Yanick J Crow, Connie Kim. Weill Cornell Medical College, New York, NY; Duke University Medical Center, Durham, NC; Hospital for Special Surgery, New York, NY; Albany Medical College, New York, NY; Ohio State University, Columbus; University of Manchester, United Kingdom; New York University, NY
Background: Degos disease is small vessel angiopathy targeting the skin, gastrointestinal tract and central nervous system of unknown etiology.
Design: Skin biopsy tissues were processed for hematoxylin and eosin, immunofluorescent, MXA immunohistochemical assessment and electron microscopy studies in a patient with primary Degos disease. As well blood samples were available upon which assessment for antiendothelial cell antibodies and serum interferon alpha levels
Results: Four patients with Degos disease were encountered ranging from 2 years to 48 years. All 4 patients developed asymptomatic small cutaneous lesions complicated by severe abdominal disease. Thre of the patients died of their disease within 1 year of presentation. Skin biopsies showed a pauci-inflamatory thrombogenic microangiopathy with prominent vascular C5b-9. There was high expression of interferon-alpha, based on tissue expression of MXA, a type I interferon-inducible protein and/or an interferon gene signature in peripheral blood mononuclear cells. An obliterative fibrous mucinous arteriopathy affecting the gastrointestinal tract was noted in cases 1 through 4 and CNS in case 3. The MXA staining paralleled the extent of C5b-9 deposition.
Conclusions: Degos disease is a distinct vascular injury syndrome affecting small vessels whereby an interferon-alpha rich microenvironment in concert with vascular C5b-9 deposition are likely causative. Complement activation is likely a direct sequelae of the local and systemic effects of interferon alpha. Improved understanding of the mechanisms of vascular injury may lead to more effective possibly with novel treatments such as with inhibitors of interferon-alpha or complement pathway activation.
Wednesday, March 2, 2011 9:30 AM
Poster Session V # 243, Wednesday Morning