Degos Disease

Degos disease, also known as malignant atrophic papulosis or Köhlmeier-Degos disease, is a progressive and often lethal obliterative vasculopathy that affects the skin, gastrointestinal tract, and central nervous system. It was first described by French dermatologist Dr. Robert Degos in 1942. Degos disease results in occlusion of small blood vessels in the skin and potentially organs, resulting in restriction of blood flow. In approximately two-thirds of those diagnosed, Degos disease only affects the skin (i.e., benign cutaneous Degos disease) and individuals have a very good prognosis. Others may have involvement of one or more organ systems (i.e., systemic Degos disease). Systemic Degos disease has a poorer prognosis and can result in disabling and life-threatening complications.  

Degos disease is extremely rare, with approximately 200 reported cases worldwide, however, this may be an underestimation as individuals may go undiagnosed.  

The underlying cause of Degos disease remains unknown, however, it is thought to be multifactorial, including environmental and genetic factors. Degos disease is a form of occlusive arteriopathy, or blockage of the small arterioles, that occurs due to multiplication of the cells lining these arterioles. This can result in restriction of blood flow and tissue necrosis (i.e., death) in the skin and organs. The exact cause of cellular multiplication remains unknown, however, proposed underlying mechanisms include vasculitis (i.e., inflammation of the blood vessels); coagulopathy (i.e., abnormal blood clotting); and autoimmunity (i.e., the body’s immune system attacks oneself).  

Affected individuals are found to have excessive deposits of C5b-9, which are proteins forming the membranolytic attack complex used in innate immunity, as well as interferon-ɑ (IFN-ɑ) (i.e., a cytokine produced by the innate immune system). This may potentially mediate the fibrotic changes leading to occlusion of small blood vessels. Some cases of Degos disease are thought to be genetic and are inherited in an autosomal dominant inheritance pattern (i.e., one copy of the mutated gene passed on by a parent is sufficient to cause disease). Genetic cases of Degos disease are typically limited to the skin.  

Those with benign cutaneous Degos disease may only have these skin lesions, whereas systemic Degos disease is further characterized by lesions in the small intestine or other parts of the gastrointestinal tract. This can lead to abdominal pain, cramping, nausea, diarrhea, constipation, weight loss, and even perforation of the bowels, bowel infection, and necrosis of the bowel wall. Gastrointestinal perforation can present as severe tenderness and pain of the abdomen, hematochezia (i.e., passing of blood with bowel movements), and hematemesis (i.e., vomiting of blood). As the contents of the intestine leak into the abdominal cavity, peritonitis can occur, which is the life-threatening inflammation of the membranes lining the abdominal cavity. Septicemia (i.e., blood infection) in the setting of peritonitis and perforation is the most common cause of death in patients with Degos disease.  

Other symptoms of systemic Degos disease include central nervous system manifestations such as hemorrhagic or ischemic strokes and polyradiculoneuropathy (i.e., injury of the nerve roots and peripheral nerves). This can result in headaches, dizziness, vertigo, seizures, paralysis of cranial nerves, or weakness of one side of the body (i.e., hemiparesis). Other neurological symptoms such as memory loss, difficulty communicating (i.e., aphasia), pain insensitivity, and altered sensations (il.e., paresthesias) may also occur. In rare cases, the eyes may be affected and individuals may develop diplopia (i.e., double vision), drooping of the eyelids (i.e., ptosis), clouding of the lenses of the eyes (i.e., cataracts), atrophy of the optic nerve, swelling of the optic nerve (i.e., papilledema), partial loss of the field of vision (e.g., visual-field defects) and blindness caused by lack of blood flow to the eyes (i.e., amaurosis fugax). The heart and lungs may also be affected resulting in shortness of breath, chest pain, and respiratory failure.  

The prognosis for systemic Degos disease is often poor with most individuals dying within 2 to 3 years of diagnosis. Degos disease can affect individuals of any age, however, symptoms most frequently appear between the ages of 20 and 50 years. Genetic males have been affected more often than genetic females, with a predominance of 3:1.