146: Degos Disease Flashcards
What are the characteristic clinical features of malignant atrophic papulosis (Degos disease)?
Malignant atrophic papulosis is characterized by numerous, typical, porcelain-white atrophic papules with a rim of rosy erythema and/or telangiectasia. The lesions start as crops of 2-10mm, asymptomatic to mildly pruritic, rose-colored macules that progress to round, smooth dome-shaped firm papules, some with central umbilication and/or necrosis, evolving into porcelain-white atrophic papules within days to weeks.
What is the epidemiology of malignant atrophic papulosis (Degos disease)?
Malignant atrophic papulosis is rare, with approximately 250 cases reported in the literature. It almost always occurs in whites, with cases also observed in African Americans and Japan. The disease most commonly presents during the third to fourth decades of life and can occur at any age, with a male-to-female ratio of 3:1. The majority of cases are sporadic, but familial cases have been reported with an autosomal dominant pattern.
What are the major pathologic mechanisms involved in Degos disease?
The major pathologic mechanisms in Degos disease include vascular coagulopathy and/or endothelial cell damage. Several disease processes converge to produce clinical and histopathologic findings, including a combination of prothrombotic factors, platelet aggravation via CXCR4 receptor, and interferon-α-mediated endotheliopathy syndrome.
What are the differences between classic Degos disease and benign Degos disease?
Feature | Classic Degos Disease | Benign Degos Disease |
|———|———————|———————|
| Involvement | Can involve skin and other organs | Only skin involvement |
| Lesion Count | Varies from few to more than 100 | Typically fewer lesions |
| Systemic Symptoms | Usually precede systemic symptoms (e.g., GI or CNS issues) | No systemic symptoms reported |
| Familial Cases | Some familial cases reported | Most familial cases are benign |
What conditions are associated with secondary Degos disease-like lesions?
Secondary Degos disease-like lesions occur in patients with lupus erythematosus, dermatomyositis, systemic sclerosis, granulomatosis with polyangiitis, Crohn disease, and opioid-induced thrombotic microangiopathy.
What is the most likely diagnosis for porcelain-white atrophic papules with rosy erythema?
The most likely diagnosis is Degos disease. It can occur as idiopathic disease (classic Degos disease or its benign variant) or as a surrogate clinical finding in connective tissue diseases such as antiphospholipid syndrome, lupus erythematosus, dermatomyositis, or systemic sclerosis.
What is the typical progression of lesions in Degos disease?
The lesions start as rose-colored macules, progress to dome-shaped firm papules with central umbilication or necrosis, and evolve into porcelain-white atrophic papules with a rim of rosy erythema. Fully developed lesions resemble atrophie blanche.
What are the three major organ systems affected in classic Degos disease?
The three major organ systems affected are the skin, gastrointestinal (GI) system, and central nervous system (CNS). Systemic symptoms include bowel perforation (GI) and hemorrhagic or ischemic stroke (CNS).
What does the presence of antiphospholipid antibodies suggest in Degos disease?
The presence of antiphospholipid antibodies suggests a possible relationship between Degos disease and primary antiphospholipid antibody syndrome (APAS).
What are the clinical differences between classic Degos disease and benign Degos disease?
Classic Degos disease involves systemic symptoms (GI and CNS involvement) and a higher risk of death, while benign Degos disease is limited to skin involvement and is often familial with a better prognosis.
What is the most common ocular manifestation of Degos disease?
The most common ocular manifestation is an avascular patch on the conjunctiva.
What is the major pathologic mechanism underlying Degos disease?
The major pathologic mechanism is vascular coagulopathy and/or endothelial cell damage, leading to thrombotic microangiopathy.
What is the role of complement-mediated injury in Degos disease?
Complement-mediated injury, involving the membranolytic complement attack complex C5b-9, is a probable late event in Degos disease. This explains why eculizumab, an anti-C5 antibody, can rescue acutely ill patients.
What is the significance of a linear distribution of lesions in Degos disease?
A linear distribution of lesions has been reported but is not typical. Exclusive acral localization suggests a connective tissue disease rather than Degos disease.
What is the role of interferon-α in the pathogenesis of Degos disease?
Interferon-α is implicated in an endotheliopathy syndrome, contributing to thrombogenic microangiopathy through the membranolytic complement attack complex C5b-9.
What is the typical site of cutaneous involvement in Degos disease?
The typical sites of cutaneous involvement are the trunk and limbs. The palms, soles, face, scalp, and genitalia are usually spared.
What is the significance of antiphospholipid antibodies in Degos disease?
Antiphospholipid antibodies are seen in some patients with Degos disease, raising the possibility of a relationship with primary antiphospholipid antibody syndrome (APAS).
What is the significance of familial cases of Degos disease?
Familial cases of Degos disease are often benign and follow an autosomal dominant pattern.
What is the relationship between Degos disease and connective tissue diseases?
Degos disease can occur as a surrogate clinical finding in connective tissue diseases such as lupus erythematosus, dermatomyositis, systemic sclerosis, and antiphospholipid syndrome.
What is the clinical significance of atrophie blanche-like lesions in Degos disease?
Atrophie blanche-like lesions are a hallmark of Degos disease and may also occur at sites of interferon injection, indicating drug-induced lesions.
What is Malignant Atrophic Papulosis (Degos Disease)?
A rare, primary vasoocclusive disorder affecting the skin, GI, and CNS.
What are the clinical characteristics of Degos Disease lesions?
They are characterized by numerous, typical, porcelain-white atrophic papules with a rim of rosy erythema and/or telangiectasia.
What is the major pathologic mechanism in Degos Disease?
Vascular coagulopathy and/or endothelial cell damage.
What is the typical age range for the presentation of Degos Disease?
Most commonly presents during the third to fourth decades of life, but can occur at any age.
What is the gender distribution of Degos Disease cases?
Men are affected more than women, with a ratio of approximately 3:1.
What are the possible ocular manifestations of Degos Disease?
Avascular patches on the conjunctiva and possible involvement of the sclera, episclera, retina, choroids, and optic nerves.
What distinguishes classic Degos Disease from benign Degos Disease?
Classic Degos Disease can involve systemic symptoms and multiple lesions, while benign Degos Disease is limited to skin involvement.
What are some associated conditions with secondary Degos Disease?
Lupus erythematosus, dermatomyositis, systemic sclerosis, granulomatosis with polyangiitis, Crohn disease, and opioid-induced thrombotic microangiopathy.
What is the significance of antiphospholipid antibodies in Degos Disease?
They are seen in some patients and raise the possibility of a relationship with primary antiphospholipid antibody syndrome (APAS).
What are the key clinical features of malignant atrophic papulosis (Degos disease)?
- Numerous, typical, porcelain-white atrophic papules
- Rim of rosy erythema and/or telangiectasia
- Lesions evolve from rose-colored macules to dome-shaped firm papules with central umbilication and/or necrosis.
- Fully developed lesions resemble atrophie blanche, leaving a varicelliform white scar over time.
What is the significance of vascular coagulopathy in the pathogenesis of Degos disease?
- Vascular coagulopathy and/or endothelial cell damage is a major pathologic mechanism.
- It involves a combination of prothrombotic factors that may trigger full-blown disease.
- Platelet aggravation via CXCR4 receptor and interferon-α-mediated endotheliopathy syndrome contribute to the disease process.
How do the clinical presentations of classic Degos disease differ from benign Degos disease?
Feature | Classic Degos Disease | Benign Degos Disease |
|———|———————|———————|
| Lesion Count | Varies from few to over 100 | Only skin involvement |
| Extracutaneous Involvement | Possible (GI, CNS) | None |
| Familial Cases | Rare | Most are familial |
| Symptoms | Precede systemic symptoms (e.g., GI perforation, stroke) | Asymptomatic lesions only |
What are the potential complications associated with classic Degos disease?
- Hemorrhagic or ischemic stroke due to small-vessel thrombotic involvement.
- Bowel perforation as a systemic symptom.
- Possible involvement of other organs such as kidneys, bladder, and eyes, leading to further complications.
What are the common ocular manifestations in patients with Degos disease?
- Most common ocular manifestation is an avascular patch on the conjunctiva.
- Other possible ocular involvements include sclerae, episcleral tissue, retina, choroids, and optic nerves which may also be affected.
What are the histopathological findings in fully developed lesions of Degos disease?
The histopathological findings include:
- Cell-poor, wedge-shaped area of mild-to-severe dermal necrosis with dermal edema and copious mucin at the papillary dermis to deep reticular dermis.
- Occluded vessels with occasional thrombosis, thickened vessel walls, and intimal fibrosis at the base of the lesion.
- Proliferating endothelial cells.
- Sparse perivascular lymphocytic infiltrate.
Note: Full-blown leukocytoclastic, neutrophilic vasculitis is never found, hence it is not classified as vasculitis.
What are the major complications associated with Degos disease?
The most frequent complications and major ominous events include:
- GI hemorrhage
- Perforation
- Peritonitis
These complications occur in up to 73% of the 30% of patients with the systemic form of the disease. Less common complications include neurologic issues such as hemiparesis, aphasia, and seizures.
