Degos Disease

Degos Disease isn’t a disease that you’ve probably heard of unless you have studied it or are a frequent viewer of medical dramas. It’s a very rare condition that almost never occurs- the world has seen about 200 cases in their records so far. Degos Disease is also known as Malignant Atrophic Papulosis. It is named otherwise after the doctor who gave the disease a clinical recognition in 1942, Dr. Robert Degos. Degos disease is a genetic condition that affects the blood clotting system in the body by ruining the blood clotting factors. Other names by which this disease has been referred to are- Degos Kohlmeier Disease, Papulosis Attophicans Malinga.

Degos disease causes endovasculitis – which means inflammation of the inner walls of the blood vessels. This, in turn, leads to occlusions in the smooth blood flow. Degos disease has been studied to mainly affect arteries that are generally smaller and not of high capacity. It is a highly progressive disease that leads to problems such as skin cell death (infarction) and of other tissues later on. This happens because when blood flow is cut off to a region, the tissues in the area usually die due to lack of nutrition- a prime example of this being myocardial infarction- heart attack.

Occlusion happens because the cells that line the inside of the blood vessels multiply and form physical barriers in this condition that makes the vessels really narrow. Depending on the occurrence, Degos disease can either be limited to just the skin and remain a benign (not fatal) condition or a severe disease that can affect most systems in the body and most organs- almost surely resulting in the death of the affected patient. Most of the patients affected by Degos disease have significantly reduced life spans and do not survive beyond two to three years following the onset of the symptoms in case of the fatal variant.

While we can generally point out that the main cause of Degos disease as a genetic condition, studies have shown that there are other causes for this disease but what all of them are, isn’t well known yet. However, a few reasonable theories that are still being researched upon have been put forward:

The viral infections act by taking over the control of the host cells and in order to increase their number, they alter the DNA and make them multiply in large numbers and very quickly.

In autoimmune conditions, the body due to some reason assumes that it’s own tissues are either foreign or unhealthy and thus proceed to attack these tissues. When antibodies attack a tissue, they’re produced in larger and larger numbers as they continue to assume every tissue is infected.

Genetic conditions generally causes the problems in coagulation – affects the clotting ability of the blood which means it’s hard to stop bleeding in such patients.

Genetic factors may also indicate that the disease could be passed by inheritance but there haven’t been many recorded cases. The factor that’s inherited isn’t known. However, it’s seen that only benign forms of Degos Disease are transmitted this way.

Some studies have shown that Degos Disease affects men more than women, however, the problem with identifying the exact incidence of Degos Disease is that this disease is highly under-diagnosed which could be due to many reasons. Fewer numbers of cases are fatal than the benign ones and since the rashes are confused with that of other diseases and forms of vasculitis, Degos disease is rarely diagnosed.

From the limited data available it’s observed that while there are chances that people of any age can be affected, the incidence is more in the younger adults.

The effects of Degos Disease depend on the particular small and medium-sized arteries that have been affected by the condition.

1. Symptoms of Benign Occurrence of Degos Disease

   On the skin- big sized spots known as papules that are either red or different shades of pink appear on the skin. The papules are seen to have particular types of rims. In sometimes these spots heal themselves and leave behind a very characteristic scar- that have a central and very white atrophic area that’s distinguishable from most other scars.

   These lesions appear all over the body except the face, palms of the hand and soles of the feet. Around 40 spots can be identified on average but some cases may present with over a hundred of them. These papules may or may not be itchy and they look like little bumps.

2. Symptoms of Malignant Occurrence of Degos Disease

   It is also known as Systemic Degos. The malignant conditions primarily affect the small intestines and other parts of the gastrointestinal system. The effects on the Gastrointestinal system can occur at any time following the skin manifestations- either a few weeks later or years.

   However, in very rare cases of Degos Disease, the symptoms of the gastrointestinal system may occur before the lesions form on the skin.

People experience and note the following symptoms when the lesion is in the small intestine-

• Moderate to severe abdominal pain that can be of an aching type.
• Cramping in the region is common
• Loose and frequent stools- known as diarrhea
• Sometimes the opposite of diarrhea happens and the patients suffer from constipation. Constipation is said to happen when a person doesn’t have any bowel movements for around 72 hours.
• Blood in the stools is another recorded symptom
• Nausea (sensation of vomiting) accompanied by vomiting
• Vomitus may sometimes contain blood.

The main function of the small intestine is to absorb all the nutrients that are essential for the body from the digested food. Lesions in the small intestine hence lead to something known as malabsorption- hence the person suffering from Degos Disease experiences symptoms such as fatigue, weight loss and other identifiable symptoms of malnutrition.

Now in severe cases or with the progression of the Degos disease, the lesions that are present can begin to rupture or tear apart. In doing so, the digested food and other contents that are present in the intestine leak out and enter the abdominal cavity by forming holes in the small intestine (known as perforations). This is a very fatal and life-threatening situation. The linings (membranes) of the abdominal cavity get inflamed during the process and this leads to a condition known as peritonitis that requires immediate intervention.

Next, to the gastrointestinal system, the most commonly affected region is the Central Nervous System which consists of the Brain and the Spinal Cord. Depending on the exact locations of these organs that are involved the symptoms may vary but the following are most commonly observed:

• Headaches
• Seizures

Cranial Nerves paralyzes that can cause problems with vision, smell, hearing, taste and even movements. Bells Palsy is an example of a cranial nerve paralysis. There are twelve cranial nerves that emerge directly from the brain and supply the major sense organs as well as structures including the diaphragm. Each has a sensory and motor component that when affected cause a variety of symptoms.

• The one-sided weakness of the body which includes both the limbs of that side- known as hemiparesis.
• Altered sensorium (consciousness) where the person can go into a stupor or even coma.
• Strokes can happen if the blood flow to the brain is temporarily cut off and this can result in paralysis of the limbs as an after effect.
• Blocked arteries in the brain can lead to small areas in the brain undergoing cell death (infarction)
• Memory loss can occur.

The Heart is another organ that can be affected by Systemic Degos Disease. The lesion may occur in the covering of the heart and cause inflammation which is known as pericarditis. When this happens, it may be followed by thickening of the pericardium as a healing response which is usually permanent and leads to the formation of scar tissues. The symptoms noted by the patient are-

• Weakness and Fatigue
• Shortness of breath
• Chest pain
• The above two symptoms happen more often during physical exertion.

The Eyes may be affected and the following symptoms can be observed-

• Double vision aka Diplopia wherein a patient sees two objects in the place of one.
• Cataract– where a white cloudy substance is formed over the lens of the eyes.
• Eyelids begin to droop downwards- ptosis.
• Papilledema which is caused when there is inflammation of the Optic Nerve.
• Loss of vision in certain fields that are broadly classified under visual field defects.

Lung tissue involvement is characterized by inflammation of the covering of the lung tissue- pleuritis (the membranes are called pleura). There might also be accumulated fluid present in the lungs known as pleural effusion.

A differential diagnosis gives insight into what another disease it could be that may have one or more of the same symptoms and resemble the disease externally to a certain extent. The difference, however, is that skin lesions are present in the facial region as well.

• Systemic Lupus erythematosus aka Lupus involves multiple systems and is an autoimmune disease.
• Vasculitis is a systemic autoimmune condition where large and small blood vessel walls undergo inflammation thereby cutting blood supply to many organs.
• Buerger’s Disease- causes many vessel blockages and affects smokers.

There is no confirmatory laboratory diagnosis of Degos disease. Thereby clinical examination along with the exclusion of other similar diseases such as the ones mentioned above are the only available methods by which a diagnosis of Degos can be made.

• Due to the indeterminable causes of the disease only symptomatic management is done for the patients as and when needed.
• Surgical intervention is necessary in case of the perforations being present in the small intestines and this may even be an emergency.
• Since Degos causes blocking of the vessels- anticoagulants that prevent clot formation have been used to treat- such as Aspirin.
• More treatments shall be available only upon further research and proper cause determination of the disease.

Currently given the unknown causes of the disease, knowledge about the prevention of the disease isn’t yet achieved.