Malignant atrophic papulosis (Degos disease) is a rare, primary vasoocclusive disorder, affecting mainly the skin, the GI tract, and the CNS.
Diagnosis relies on clinical and pathologic evaluation and correlation.
Characterized by numerous, typical, porcelain-white, atrophic papules, with a rim of rosy erythema and/or telangiectasia.
Pathology shows a wedge-shaped area of dermal necrosis with edema and mucin deposition.
Benign forms without extracutaneous involvement are possible.
Köhlmeier first described malignant atrophic papulosis in the early 1940s, and Degos, Delort, and Tricot recognized it as a specific entity a year later.1-3 We now know that the clinically distinctive lesion of so-called Degos disease is a marker of cutaneous thromboobliterative vasculopathy rather than of a specific disease per se. Such lesions can be found in at least 2 distinctive clinical settings: (a) as an apparent idiopathic disease, either classic Degos disease or its benign variant, or (b) as a surrogate clinical finding in some connective tissue diseases such as the antiphospholipid syndrome, lupus erythematosus, dermatomyositis, and systemic sclerosis.
Classic Degos disease is rare, with approximately 250 reported cases in the literature. It almost always occurs in whites, but cases have been observed in African American patients and in Japan. The disease most commonly presents between the third and fourth decades but can occur at any age. Men are more often affected than women (ratio: 3:1). The majority of cases are sporadic, but familial cases have been described, and most of these cases are consistent with an autosomal dominant pattern of inheritance.4
ETIOLOGY AND PATHOGENESIS
The etiology of Degos disease is poorly understood. The histopathologic findings suggest a primary vasoocclusive process, and vascular coagulopathy and/or endothelial cell damage should be considered as the major pathogenic mechanism. Several disease processes may converge to produce the clinical and histologic findings. A combination of prothrombotic factors possibly plays a role in triggering the full-blown disease. Extensive studies of prothrombotic factors have been performed in patients with Degos disease, and no single abnormality has been repeatedly identified. Assier and colleagues did not find antiphospholipid or antiendothelial cell antibodies in their series of 15 patients.5 Inhibition of fibrinolysis and platelet abnormalities, including increased platelet adhesiveness and spontaneous aggregation, have been reported in some patients.5-8 Strong stromal cell–derived factor-1/CXCL12 expression of the inflammatory cells was reported in 2 Japanese patients. This could contribute to platelet aggregation via the CXCR4 receptor.9 Magro and colleagues suggested that Degos disease could be an interferon-α–mediated endotheliopathy syndrome,10 and that the membranolytic complement attack complex C5b-9 could contribute to the thrombogenic microangiopathy.10,11 However, complement-mediated injury is probably a late event, explaining why targeted treatment with an anti-C5 antibody, eculizumab, can effectively rescue the acutely ill, but has no effect on occlusive fibrointimal arteriopathy.11
Figure 146-1 outlines an approach to ...