Degos disease, also called malignant atrophic puliosis, is an extremely rare disorder characterised by the obstruction of small and medium-sized arteries, reducing blood flow to areas such as the skin, gastrointestinal tract, and the central nervous system (CNS).¹ There are two recognised forms of this condition: benign cutaneous Degos disease and systemic (malignant) Degos disease. The benign form leads to skin lesions, which start as small red bumps that evolve into porcelain-white spots with a red border, typically found on the trunk and upper extremities.² Systematic Degos disease impacts the skin and internal organs. In addition to the skin lesions, it can affect the gastrointestinal tract, CNS and other organs, resulting in serious complications such as pain, bleeding, or neurological problems.³

Although skin lesions are a key feature of Degos disease, the CNS can also be affected, which is important for indicating whether it is a systemic form rather than a benign condition. The most common abnormalities include blockages in the small and medium-sized arteries (subarachnoid and extraparenchymal), which can lead to serious complications, including neurological symptoms.⁴ This complicates diagnosis and treatment, making it challenging to restore blood flow to the blood vessels of the brain and to prevent irreversible neurological damage. This article focuses on the specific challenges of treating the CNS complications in Degos disease and why effective management remains so difficult.

How degos disease affects the CNS 

The CNS is made up of the brain and spinal cord. It processes and sends signals between the brain and the rest of the body to regulate movements and functions. In Degos disease, the CNS is often affected, with damage to the inner lining of the smaller and medium-sized arteries.⁴ This damage may be a result of immune system activation, inflammation, or clotting abnormalities.⁵ As a result, small blood clots (thrombi) can develop and block the vessels, reducing blood flow to areas of the brain or spinal cord. This can result in different neurological problems, which vary depending on the area affected. CNS involvement in Degos disease almost always signals a severe form of the illness and is linked with a poor prognosis. 

Symptoms of the CNS involvement in Degos disease include:⁶

• General symptoms: headaches and dizziness
• Coordination problems: weakness on one side of the body (hemiparesis), paralysis of cranial nerves, seizures, and ischemic strokes
• Sensory changes: pain insensitive and altered sensation
• Cognitive difficulties: memory loss, difficulty speaking or understanding speech (aphasia)
• Tissue damage: small areas of brain death caused by blocked arteries (cerebral infarcts)

Why treating CNS complications is challenging 

Rarity of the condition

Treating CNS complications in Degos disease is challenging due to several contributing factors. One of the main reasons is the rarity of the condition, which also leads to limited research and clinical trials. Fewer than 200 patients have been reported in medical literature, and fewer than 50 patients worldwide are known to be alive. ⁷ The low prevalence makes it difficult to conduct studies and create targeted therapies, as the causes and mechanisms remain unclear, hindering the development of effective treatments. 

No definitive diagnostic tests available

There is no specific laboratory test available to diagnose the condition. ⁸ It depends on clinical suspicion and the observation and monitoring of skin lesions, which adds to the challenge. ⁶

Rapid progression 

CNS involvement in Degos disease can lead to severe neurological symptoms, including ischemic strokes, cognitive difficulties and seizures, which significantly impact the patient's life. ⁶ Due to the lack of research and the wide range of symptoms, they all require different treatments, making it difficult and complex to manage simultaneously. Additionally, the brain and spinal cord require regulated blood flow, but in Degos disease, the arteries become blocked; restoring circulation without causing additional damage is difficult, as it may lead to potentially dislodged clots and further complications. 

Late or incorrect diagnosis 

Skin lesions can develop in advance of neurological symptoms, which complicates early diagnosis and intervention. Furthermore, this can cause symptoms that resemble various neurological diseases, which makes treating the CNS complications difficult. 

Current treatment options for CNS complications in degos disease

There is currently no cure for Degos disease, and treatment of CNS complications remains a challenge in managing the condition. Most approaches aim to manage symptoms and to prevent further damage, and slow disease progression. 

The first step involves treating symptoms of the condition through supportive care. For example, medication can be used to manage epileptic episodes, while physical therapy and rehabilitation can help patients regain strength or mobility following a stroke-like event. These approaches help to manage the symptoms and immediate issues, but don’t alter the disease's course. 

A breakthrough occurred with the introduction of eculizumab, a drug originally used for other blood-related diseases. This does not provide a cure; however, eculizumab has been observed to help some patients by reducing immune-mediated damage in blood vessels, which offers temporary stabilisation for CNS symptoms.⁷ Additionally,  in a few cases, treprostinil combined with eculizumab has shown promise in both gut and CNS symptoms; this may be due to improved blood flow or promoting new vessel formation.^7,10

Despite these advances, not all patients show improvements. Some patients show initial progress but then experience a setback, while others do not gain any benefit at all. This inconsistency creates challenges in determining who will benefit and when treatment should begin. Treatment relies on patients' reports and clinicians' experience, meaning that treating CNS complications remains a matter of careful balancing, matching possible benefits against serious side effects, while managing uncertainty.

Challenges in clinical management 

Managing Degos disease with CNS involvement presents several difficulties. One major challenge is predicting which patients are likely to develop CNS complications. Skin symptoms and lesions can develop months or even years before any neurological signs are evident. Currently, there are no reliable tests to identify individuals at a higher risk. 

Another real-life challenge is that effective care for managing this disease requires an integrated, multispecialty team.⁹ Neurologists are important for addressing CNS damage, dermatologists manage skin lesions, and other healthcare professionals may be involved in managing and monitoring other symptoms. Coordinating these specialities can be challenging, particularly when a patient resides far from the required care.

In addition, treatment options are often limited, and responses can vary between patients. For example, some reports describe the use of complement inhibitors such as eculizumab, which in certain cases helped stabilise neurological symptoms, but in others offered little or no improvement.¹¹ This inconsistency makes it difficult for clinicians to decide on the best course of action, especially given the risks and costs involved.

FAQs 

What is degos disease?

Degos disease is an uncommon condition where small and medium-sized blood vessels become blocked. This reduces blood flow to the skin, gastrointestinal tract, and the CNS. 

Is Degos disease always fatal when the CNS is involved?

CNS involvement often signals a more severe form and is linked to a poor prognosis. However, outcomes differ between patients. Some may stabilise for a time with treatment, while others decline more quickly. Early recognition and specialist care are important.

Can degos disease be diagnosed with a single test?

No. There is no specific test for Degos disease. Diagnosis usually relies on a doctor recognising the characteristic skin lesions and ruling out other conditions. A biopsy of a skin lesion can sometimes help confirm the diagnosis.

How does degos disease affect the brain and spinal cord?

When Degos disease involves the CNS, the blocked vessels cut off oxygen and nutrients to areas of the brain or spinal cord. This can cause strokes, seizures, weakness, memory problems, and other neurological issues.

Why do patients and families find this disease so difficult to cope with?

The condition is unpredictable, treatments are limited, and outcomes are uncertain. Patients may live for years with only skin symptoms, while others develop sudden, severe neurological problems. The emotional strain of this uncertainty can be overwhelming for both patients and families.

Summary 

Degos disease is an extremely rare condition that becomes particularly difficult to manage once the CNS is involved. Skin lesions may appear long before neurological symptoms, but CNS complications usually mark the systemic form and are linked to poor outcomes. Treatment is hindered by the absence of reliable diagnostic tests, the unpredictable progression of symptoms, and the fact that vessel damage in the brain and spinal cord is often irreversible. Current options, including supportive care, anticoagulants, and experimental drugs such as eculizumab, can provide temporary benefit for some patients but remain inconsistent and carry significant risks. Effective management requires coordinated input from multiple specialists, yet access to such expertise is limited, and the uncertainty of the disease places a heavy emotional toll on patients and families. More research into the underlying mechanisms and targeted therapies is essential to improve future care.