What Is Degos Disease?

In this article, we will explore Degos Disease to help provide you with a thorough understanding of this extremely rare medical condition. We will explore what Degos disease is, the underlying causes, symptoms, diagnosis, and treatment techniques available to ensure that you are well-informed about this rare medical condition and gain valuable insight to aid you in making well-informed decisions regarding your own care.

Degos disease, also known as Malignant Atrophic Papulosis or Systemic Degos Disease, is an extremely rare medical condition poorly understood as a result. Degos disease can be identified by small, red and raised lesions on the skin, which can result in severe complications among various organs, such as the central nervous system and the gastrointestinal tract. Due to the complex and rare nature of the disease,  Degos disease remains a key subject of ongoing medical investigation and research. 

Degos disease is an extremely rare medical condition which mainly affects the blood vessels and skin. Degos disease can be identified by small, red, and raised lesions present on the skin, which can result in severe complications. While this provides a brief introduction to degos disease, there is much more to explore on the symptoms, causes, diagnosis, and treatment, which we will focus on in the following sections. 

Introduction

Definition of degos disease

Degos disease (also known as Malignant Atrophic Papulosis or Systemic Degos Disease) is an extremely rare and misunderstood medical condition,  most commonly identified by skin lesions. However, this can progress and affect multiple organs in the body. The onset of symptoms typically begins between the ages of 20 and 50, with symptoms persisting for several weeks or even years. Due to the rarity of this disorder, complex challenges can arise due to the absence of a clear understanding of the underlying cause. 

Rare and serious vascular disorder

This disorder is extremely rare due to its unknown cause, affecting not only the skin but a wide range of organs, including the central nervous system, gastrointestinal tract, liver, heart, eyes, lungs and kidneys.¹ The complex nature of this disease can be highlighted by the fact that there are only roughly fewer than 200 reported cases of this disease worldwide.² 

Clinical presentation

Skin manifestations

Degos disease is commonly recognised by various skin manifestations in the form of distinct skin lesions, which can begin as small erythematous papules. These distinct red papules can often resemble insect bites,  gradually evolving into atrophic scars with a porcelain-white center (this is when the skin doesn’t regenerate properly following a wound).³ Whilst skin manifestations are a central hallmark of degos disease, it is also important to note that Degos disease can affect multiple organs as well as the skin. 

Gastrointestinal involvement

Whilst degos disease can present with unique skin manifestations, degos disease can also result in severe gastrointestinal involvement. A key component of this is intestinal perforations, which is a potentially very serious complication which involves the rupture of the intestinal wall, resulting in abdominal tenderness, pain, as well as life-threatening consequences.⁴ Any gastrointestinal symptoms posed by degos disease can have a significant impact on the clinical outcome for a patient. This highlights the need for early recognition and intervention with this extremely rare and complex disease. 

Central nervous system symptoms

Alongside skin manifestations and gastrointestinal involvement, Degos disease can also significantly impact the central nervous system, triggering a range of neurological deficits as well as stroke-like episodes. The main symptoms include seizures, vision impairments, paralysis, and speech difficulties,  resembling the effects of a stroke, as well as a range of other neurological conditions.5 The impact Degos disease plays on the central nervous system highlights the complex life-changing nature of this disease as well as indicates the need for a multidisciplinary approach to diagnosis as well as treatment. 

Diagnosis

Clinical evaluation

Diagnosis of Degos disease typically involves an extensive clinical evaluation. The crucial first step involves a skin biopsy,  helping to confirm the skin lesions as well as their atrophic porcelain-white centres.⁶ In addition, neuroimaging studies such as MRI (Magnetic Resonance Imaging) are used to assess the potential impact Degos disease may have on the central nervous system.⁷ Combining both of these diagnostic approaches, alongside clinical evaluation, aids in identifying and diagnosing Degos disease. However,  due to the complex and rare nature of this disease, it remains a challenging condition to diagnose. 

Exclusion of similar conditions

While skin biopsies and neuroimaging studies are used in the diagnosis process of Degos disease, it is also important to exclude other additional medication conditions that may share similar symptoms. This process involves ruling out possible connective tissue disorders and vasculitis, which can present with vascular involvement as well as skin lesions.⁸ As a result, careful identification and differentiation are key as management and treatment of these conditions can significantly vary. For a full diagnosis of Degos disease, healthcare professionals employ a combination of clinical evaluation, histopathology, as well as a range of tests to eliminate alternative medical conditions and ensure an accurate diagnosis. 

Aetiology

The exact causes of Degos disease remain unknown due to the mysterious nature of this disease. Current research suggests a complex involvement of factors contributing Degos disease, including genetic and autoimmune components. Particular studies suggest that an autoimmune response can result in blood vessel damage, whereas additional studies suggest that genetic mutations can cause Degos disease.1 However, the exact cause of Degos disease remains unknown, therefore highlighting the need for further research to unravel the mysteries behind this rare and complex disease.

Treatment

Supportive care

There is currently no cure for Degos disease, therefore the focus of treatment surrounding Degos disease involves supportive care. This includes managing present symptoms and complications to help improve the patient’s quality of life. Various pain management techniques are used, such as medications, to alleviate any discomfort, particularly skin lesions and abdominal pain. Among cases that include gastrointestinal involvement, nutritional support may be required to aid in nutrient absorption.9 While these techniques don’t address or treat the underlying cause of Degos disease, they play a vital role in improving the well-being of individuals affected by this disease. 

Immunomodulatory therapies

In order to manage the autoimmune aspects of Degos disease, various immunomodulatory therapies are often used. These immunosuppressant medications are prescribed to reduce the body’s immune response and help to lessen any inflammation. The use of these medications also helps to ease the progression of skin lesions and reduce any possible complications that may affect other organs, such as the central nervous system and the gastrointestinal tract.¹⁰ These medications can prove beneficial in some cases; however, the effectiveness of these medications varies among patients. This highlights the ongoing challenges of treating this rare and complex condition. 

Anticoagulant therapy

An additional treatment method for degos disease involves the use of anticoagulant therapy. Degos disease can often result in the formation of blood clots within small blood vessels; as a result, anticoagulant medications such as warfarin or heparin may be prescribed. These anticoagulant medications can aid in preventing the development of further additional blood clots as well as reducing the risk of various complications associated with impaired blood flow to vital organs. These medications can improve blood circulation,  ultimately providing relief for some of the symptoms associated with Degos disease.6 The choice and dosage of anticoagulants should be determined on an individual basis by a trained, licensed healthcare professional who is familiar with the patient’s clinical symptoms and medical history. Regular monitoring of these anticoagulant medications is essential to ensure their safety and efficacy. 

Summary

Degos disease (also known as Malignant Atrophic Papulosis or Systemic Degos Disease) is an extremely complex and rare condition that mainly affects the skin but can also lead to complications surrounding multiple different organs. The main symptoms involve red, raised skin lesions that can often resemble insect bites, as well as abdominal pain and stroke-like episodes. Due to the uncertainty surrounding the cause of Degos disease, the complex clinical symptoms, and the absence of a cure,  this disease is very difficult to diagnose and treat. This indicates the pressing need for further research to discover the cause as well as develop more effective treatments. Overall, an improved understanding as well as effective treatments are essential in providing better outcomes and care for individuals who are affected by this challenging condition.

In conclusion, Degos disease remains a medical enigma, necessitating ongoing research to unravel its mysteries and develop targeted therapeutic interventions. The rarity and complexity of the disease pose significant challenges in diagnosis and treatment, underscoring the importance of a multidisciplinary approach involving clinical evaluation, histopathology, and various tests. While there is no cure for Degos disease, supportive care, immunomodulatory therapies, and anticoagulant therapy aim to alleviate symptoms and enhance the quality of life for those affected. As our understanding of Degos disease advances, so too will the prospects for more effective management and, ultimately, improved outcomes for individuals grappling with this perplexing condition.