ICD-9-CM 447.8 DiseasesDB 29425 MeSH D054853 | OMIM 602248 eMedicine derm/931 | |
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Degos disease (also called malignant atrophic papulosis) is a rare vasculopathy that affects the lining of the medium and small veins and arteries, resulting in occlusion (blockage of the vessel) and tissue infarction.
The blood vessels affected include those supplying the skin, gastrointestinal tract, and central nervous system. This can result in bowel ischemia (mesenteric ischemia or ischemic colitis), chronic skin lesions, ocular lesions, strokes, spinal lesions, mononeuritis multiplex, epilepsy, headaches or cognitive disorders. Pleural or pericardial effusions are also reported.
There are fewer than 50 living patients at present known worldwide, and fewer than 200 reported in medical literature.
The outcome of this disease can be fatal with a median survival of 2 to 3 years, although some appear to have a benign form (Degos acanthoma) which affects only the skin. Laparoscopy may be an effective means of screening those with cutaneous lesions to determine if systemic disease is present. Treatment options are limited, and until recently consisted mainly of antiplatelet drugs or anticoagulants or immunosuppressants with few reports of prolonged survival. More recently eculizumab and treprostinil have been employed. Response to eculizumab is often immediate and dramatic, but has been of limited duration in all so treated. Treprostinil use has been reported to result in clearing of gastrointestinal and CNS findings as well as clearing of cutaneous lesions, but reports are limited. Treprostinil may be more effective than other vasodilators because it may also increase the population of circulating endothelial cells, allowing angiogenesis.
There are suggestions that Degos disease is not a separate disorder, but the final result of several vascular systemic disorders.
History
The disease is named for Robert Degos, who recognised it as a clinical entity in 1942, after it was first described by Kohlmeier in 1941. Degos himself subsequently suggested the name "papulose atrophiante maligne," translated as malignant atrophic papulosis.
In November 2007, a research symposium on Degos disease was held at Massachusetts General Hospital in Boston, bringing together 19 patients and a group of clinicians and researchers to study the clinical presentation and underlying causes of the disease, in conjunction with a study group on Degos held at the annual meeting of the American College of Rheumatology that year in Boston. No successful treatments were identified until late 2009. A male patient in the fifth decade was diagnosed with the systemic form of the disease and was severely ill. The diagnosing pathologist, Cynthia Magro MD, identified the presence of C5b-9 complexes in the involved vessels of the skin biopsy. She suggested the use of eculizumab, a humanized monoclonal antibody drug developed by Alexion Pharmaceuticals and approved by the Food and Drug Administration for treatment of Paroxysmal nocturnal hemoglobinuria. The patient experienced a dramatic turnaround in his condition.
About the same time, a teenager was similarly diagnosed with systemic Degos disease and became gravely ill. Lee Shapiro MD and Aixa Toledo-Garcia MD at Albany Medical College learned of the success with the adult patient, and became the first physicians to successfully treat a pediatric Degos patient with eculizumab. Dr. Shapiro later observed the resolution of Degos skin lesions in an adult patient with an overlap syndrome involving systemic lupus, systemic sclerosis, and Degos disease who was treated with treprostinil for her pulmonary hypertension. His pediatric Degos patient was developing significant complications despite treatment with eculizumab, and Dr. Shapiro's group became the first to treat a Degos patient with treprostinil. To this point, all known long-term survivors of systemic Degos disease are being treated with a combination of eculizumab and treprostinil.