Degos Disease Workup

No specific laboratory test can be used to aid in diagnosing Degos disease (DD). In fact, most laboratory test results are normal, with the exception of the manifestation of anemia secondary to intestinal bleeding. Note the following:

• In 1 patient, laboratory examinations disclosed persistent elevations of the thrombin-antithrombin III complex, plasmin-alpha 2 plasmin inhibitor complex, and cytotoxic T-cell subset (CD8⁺ CD11^-), illustrating the coagulative, fibrinolytic, and immunologic implications of Degos disease.
• In a series of 3 patients with Degos disease, prolonged euglobulin lysis time, increased plasminogen activator levels, and increased plasminogen activator inhibitor activities were detected before and after a venous occlusion test, indicating an inhibition of fibrinolysis.
• In a series of 3 patients with Degos disease, electron microscopy demonstrated an increased number of Weibel-Palade bodies and a raised staining of von Willebrand factor in endothelial cells in 1 patient.
• In a series of 3 patients, test results for coagulation and circulating anticoagulant were in the reference range.
• In a series of 3 patients, the results of platelet adhesion showed decreased adhesion in 1 patient and increased adhesion in another patient. Platelet aggregation study results decreased to the reference range in 2 patients. In one patient, tests showed hyperactive spontaneous and induced platelet aggregation.
• Amounts of protein in the cerebrospinal fluid and amounts of platelet aggregation have been reported as sharply increased in progressive stages of the disease. For example, laboratory results showed a gradual increase of cerebrospinal fluid proteins (from 156 mg/dL to 602 mg/dL) and an extremely increased amount of platelet aggregation.
• In Degos disease, viruslike inclusions are frequently present in the endothelial cells and fibroblasts. C3 deposits and the presence of intracytoplasmic cylinders are also frequently present in the histiocytes.
• Hohwy et al^[31] reported a fatal case of systemic malignant atrophic papulosis (MAP) in a man with factor V Leiden mutation and lupus anticoagulant.

Imaging findings in Degos disease can include the following:

• MRI of the brain can show multiple cerebral infarctions accompanied by small hemorrhagic areas and gadolinium-diethylenetriamine pentaacetic acid enhancement of the dura.^[32] They can also reveal intracerebral bleeding, subdural hemorrhage, and cord infarcts.
• A cerebral angiogram may reveal narrowing and occlusion of small intracranial arteries. Specifically, a cerebral angiogram can depict stenosis, ectasia, and aneurysms involving the peripheral branch of arteries.^[32]
• EEG tests have shown generalized nonspecific slowing.
• In some patients, electromyograms demonstrate axonal and demyelinating polyneuropathy.
• With angiograms, stenoses can be observed in the celiac artery and the small arteries in the kidney.
• In some patients, chest radiographs have depicted extensive calcification of the pericardium. Although pleural involvement and pericardial involvement have been reported in Degos disease, constrictive pericarditis is most unusual, and radiographically demonstrable calcification of the pericardium has not been previously reported.
• Matsuura et al^[29] noted a fatal case of malignant atrophic papulosis involving the optic nerve and spinal cord. MRI of the optic nerve demonstrated (1) pathologic signal enhancement on fat-suppressed, T1-weighted images after intravenous meglumine gadopentetate infusion and (2) a sawtooth pattern over 7 vertebral segments of the spinal cord on T2-weighted sagittal images. These findings were confirmed at autopsy, during which pathologists grossly noted (1) a pronounced decrease of myelinated nerve fibers in the left optic nerve with thrombotic obstruction of the central retinal artery, (2) spongy degeneration in all levels of the spinal cord, and (3) patchy and moth-eaten patterns due to thromboses and endothelial proliferation in subarachnoid vessels.
• Amaravadi et al^[33] described CT scan findings a 40-year-old woman. CT scanning of the abdomen and pelvis with oral and intravenous contrast demonstrated extensive ascites and nodular thickening of the omentum. A subsequent CT scan of the abdomen and pelvis with intravenous contrast showed a large amount of ascites with small bowel wall thickening and patchy mucosal perfusion and intraluminal hemorrhage into a loop of infarcted jejunum, which was later confirmed at autopsy to be an intraluminal clot. A final CT scan of the abdomen and pelvis with only intravenous contrast, which was performed to investigate worsening peritonitis, showed extensive pathology. An axial image demonstrated pneumoperitoneum with edematous and hyperemic small bowel loops consistent with small bowel ischemia. Discontinuity in the wall of a loop of jejunum was consistent with perforation. Multiple jejunal perforations were later demonstrated at autopsy.

Note the following:

• Endoscopy of the gastrointestinal tract (ie, stomach, esophagus, duodenum, colon, rectum) can show infarcted lesions or ulcers.
• Laparoscopy of the intestine can show similar type lesions that manifest with white plaques with red borders on the serosal surface of the bowel and the peritoneum.
• In 2007, Amaravadi et al^[33] reported autopsy findings from a 40-year-old female Degos disease patient. They found omental infarction and multiple yellow plaques on the serosal surface of the small bowel during an exploratory laparotomy.

Early papules in Degos disease are skin colored and can demonstrate a superficial and deep perivascular, periadnexal, and perineural chronic inflammatory cell infiltrate associated with interstitial mucin deposition, as shown in the images below.

A mild vacuolar interface reaction has been described. The vacuolar interface dermatitis, dermal mucin, and perivascular lymphoid infiltrate mimic lupus erythematosus.

Fully developed papules can be raised, with umbilicated porcelain-white centers and a surrounding erythematous rim. Histologically, these papules demonstrate wedge-shaped degeneration of collagen, as shown in the image below.

An interface dermatitis can be present but is often limited to the central portion of the tissue examined histologically. Additionally, squamatization of the dermoepidermal junction, melanin incontinence, and epidermal atrophy can manifest.^[34]

In many cases, an area of papillary dermal sclerosis manifests that mirrors the early stages of lichen sclerosus et atrophicus.

Hyperkeratosis, epidermal atrophy, dermoepidermal separation, edema, and papillary dermal necrosis occur. Fibrinoid necrosis and thrombosis occur in the papillary dermis and in the capillary and venules. Others have noted that skin biopsy specimens show hyperkeratosis, atrophy of the epidermis, and necrobiosis of the collagen layer. Well-developed papules of Degos disease with epidermal atrophy and hyperkeratosis overlying a wedge-shaped area of cutaneous ischemia extending into the deep dermis have also been observed.

A superficial and deep perivascular lymphocytic infiltrate can gather at the fringe of ischemic areas. Marked endothelial swelling and occasional platelet-fibrin thrombi are often noted. Infarctive changes or scattered necrotic keratinocytes may be present in the epidermis. Abundant acid mucopolysaccharides often occur in the dermis, mimicking dermal mucinosis.

Direct immunofluorescence examination does not yield definitive results. Perivascular fibrin and complement can be present. In one reported case, autopsy results demonstrated the clinical diagnosis of Degos disease based on the finding of thromboangiitis of the Burger type, with bland infarcts of the small intestine and perforation of the jejunum.

Microaneurysms of the bulbar conjunctival vessels have been described.

Changes in the kidneys manifest with thickening of the afferent glomerular arterioles and the capillary basement membrane.

In 2008, Notash et al^[9] described a fatal case of Degos disease in a 48-year-old man whose autopsy findings demonstrated diffuse fibrotic changes in the serosal membranes and the internal organs.