Malignant atrophic papulosis (Degos disease) with central nervous system involvement.

A 49-year-old man presented with a 2-year history of weakness and sensory disturbances in the bilateral lower extremities, vesicorectal dysfunction, and progressive gait disturbances. Brain MRI revealed multiple ischemic and hemorrhagic cortical/subcortical lesions with patchy enhancement involving the frontal and parietal lobes, suggesting the possibility of distal perforating arteries injury. Spine MRI revealed lesions of the cervical and thoracic spinal cord with associated enhancement. The diagnosis of malignant atrophic papulosis (Degos disease) with central nervous system involvement was prompted by the characteristic skin lesions.

Malignant Atrophic Papulosis Presenting with Intestinal Perforation: A Case Report.

Malignant atrophic papulosis sometimes known as Degos' disease is an idiopathic, uncommon condition with fewer than 200 occurrences documented. It is a chronic thrombo-obliterative vasculopathy characterised by papular skin lesions with a core porcelain-white atrophy and a surrounding telangiectatic border. We report a 15-year-old male patient with a recurrent history of hollow viscus perforation, which was managed on all the occasions with exploratory laparotomy and primary perforation repair. Additionally, the patient had a five month history of numerous, non-itchy, atrophic papules with a core porcelain-like area and hyperkeratotic margins, characteristic of Degos' disease. The only basis for diagnosis is the distinctive skin lesions with biopsy. Along with systemic lupus erythematosus and other connective tissue diseases, tuberculosis must also be taken into account while assessing the clinical presentation of malignant atrophic papulosis. There is currently no known treatment for malignant atrophic papulosis that has been effective. Keywords: case reports; intestinal perforation; malignant atrophic papulosis; ulcer; vasculitis.

Degos disease in a child presenting with acute renal failure.

Degos disease, also termed malignant atrophic papulosis, is a rare systemic vaso-occlusive disorder, seldom reported in the pediatric population. The pathognomonic skin lesion in Degos disease is a papule with an atrophic porcelain-white center with an erythematous, telangiectatic rim. The benign form of the disease remains limited to the skin, whereas, in others, it progresses to thrombotic vasculopathy in multiple organs including the gastrointestinal, cardiorespiratory, and central nervous systems, with a high mortality rate. We present a rare case of Degos disease in an adolescent female, presenting as acute renal failure secondary to thrombotic vasculopathy, with the characteristic skin lesion distinctively seen on dermoscopy.

Atrophic Papulosis.

BACKGROUND: Atrophic papulosis (AP) is a rare obliterating vasculopathy characterized by specific skin lesions. The etiology and the pathophysiology of the disease remain unclear. The treatment is still empirical, while the malignant form of the disease is associated with a poor prognosis. SUMMARY: The underlying pathogenesis of AP includes three mechanisms with vasculopathy, coagulopathy, and endothelial dysfunction. Benign and malignant forms of AP are described. The benign form is confined to the skin. The pathognomonic skin lesions evolve over time and are large papules with an atrophic porcelain-white center and an erythematous rim. However, systemic involvement can occur months or years after the initial skin features. In this latter case, the associated mortality is very high with a mortality rate of over 65% in some series. Gastrointestinal involvement and central nervous system infarctions are the most frequent causes of death. Treatment is empirical with the use of antiplatelet therapy, anticoagulants, steroids, intravenous immunoglobulins, and immunosuppressive agents. Recent evidence shows that eculizumab, a complement inhibitor, is the most effective therapy in malignant AP with gastrointestinal involvement of the disease and should be combined with treprostinil to prevent relapse.

Inflammation and thrombo-occlusive vessel signalling in benign atrophic papulosis (Köhlmeier-Degos disease).

BACKGROUND: Although the merely cutaneous, benign form of the extremely rare disease atrophic papulosis (Köhlmeier-Degos disease) may occasionally develop into the systemic, malignant form with time, it is unclear whether it exhibits any systemic characteristics. OBJECTIVE: To determine whether benign atrophic papulosis exhibits inflammatory and thrombo-occlusive signals and to classify it according to the Chapel-Hill classification of vasculitis. METHODS: In a monocentric, controlled study, levels of cytokines (IL-1ß, IL-6, IL-8, IFNγ, MCP-1, VEGF, TNFα, TGF-ß1), antiphospholipid antibodies (cardiolipin IgG/A/M, cardiolipin IgG, cardiolipin IgM, ß2-glycoprotein IgG/A/M, phosphatidyl choline, phosphatidyl serine, phosphatidyl inositol, phosphatidyl ethanolamine and sphingomyelin A), antibodies against proteinase-3 IgG and myeloperoxidase IgG, antinuclear antibodies and extractable nuclear antigen were assessed in blood samples of six benign atrophic papulosis patients and six age- and sex-matched healthy controls. RESULTS: IL-8 was only detectable in patients' serum. VEGF was reduced and cardiolipin IgG/A/M and ß2-glycoprotein antibodies were increased in the patients' group. ANA were only detected in three patients, and ENA were negative throughout. No differences were detected between the other investigated markers. CONCLUSIONS: This is the first study evaluating systemic inflammatory and thrombo-occlusive vessel signalling in benign atrophic papulosis and provides evidence of a non-antineutrophil cytoplasmatic antibodies immune-complex small vessel vasculitis according to the Chapel-Hill classification. These findings corroborate its systemic character despite the apparent missing involvement of systemic organs.

Exploring the pathophysiologic basis of constrictive pericarditis of Kohlmeier Degos disease: A case series and review of the literature.

Kohlmeier-Degos Disease is a unique thrombotic microvascular and arteriopathic vasculopathy that is highly selective in the organs it targets. It invariably involves the skin and can be a purely cutaneous process. It affects both the microvasculature and the arterial system ranging from a thrombogenic microangiopathy to a fibrointimal obliterative arteriopathy with an accompanying background of extravascular fibrosis. A potentially lethal complication of Kohlmeier-Degos disease is constrictive pericarditis and pleuritis. We present three male patients, ages 26 years, 46 years and 58 years of age with established cutaneous and gastrointestinal Kohlmeier-Degos disease who developed progressive pericarditis which in two necessitated a pericardiectomy. There are 6 other reported cases, 5 in men, with restrictive symptoms developing on average 6 years following the onset of skin disease and all with gastrointestinal involvement. Half of the patients died within one year following the diagnosis of cardiopulmonary restrictive disease. The restrictive symptoms developed within 12 months, 2 years and 11 years following the initial skin presentation. In one patient this complication developed despite receiving eculizumab, indicative that this extravascular fibrosing reaction was not complement mediated as opposed to the thrombotic microvascular component of the disease which is C5b-9 mediated. Two of the three patients had evidence of right ventricular dysfunction. Two of our patients died within 1 year of developing constrictive pericarditis due to progressive cardiopulmonary failure. A profibrogenic process resembling scleroderma was seen given the degree of smooth muscle actin staining along with a mirror image reduction in CD34 expression within the fibrotic pleura and pericardium. There was significant upregulation in type I interferon signaling in cases tested as revealed by the degree of staining for MXA, the surrogate type I interferon marker. We propose that excessive type I interferon signaling results in the influx of monocyte derived dendritic cells with subsequent transdifferentiation into potent collagen producing myofibroblasts. We believe that targeting and suppressing type I interferon signaling should be a cornerstone of early therapy in patients with Kohlmeier- Degos disease to prevent pleural and pericardial fibrosis.

Degos disease complicated by constrictive pericarditis in remote phase: a case report.

BACKGROUND: Degos disease, also known as malignant atrophic papulosis, is characterised by cutaneous manifestations due to chronic thrombo-obliterative vasculopathy. There have been reports of the rare late-onset Degos disease complicated by constrictive pericarditis (CP). This study reports a case of CP caused by Degos disease that developed 20 years after diagnosis. CASE PRESENTATION: A 62-year-old woman who had been taking aspirin for 20 years for Degos disease was hospitalised for worsening of heart failure. The patient was diagnosed with CP and underwent pericardiectomy. Pathological findings suggested the involvement of Degos disease. The postoperative course was uneventful, and her heart failure and Degos disease did not worsen. CONCLUSIONS: The study findings suggests that Degos disease can cause long-term CP. Aspirin effectively inhibited the progression of Degos disease, and surgical treatment was necessary when heart failure due to CP was refractory to treatment.

Neurological Involvement in Malignant Atrophic Papulosis: A Comprehensive Review of Literature.

Malignant atrophic papulosis (MAP), or systemic Degos disease, is an obliterative vasculopathy of unknown origin, characterized by erythematous papules found on the skin, central nervous system (Neuro-MAP) and gastrointestinal tract. Neurological involvement occurs in approximately 20% of systemic cases, is progressive and largely fatal. It can be described in two forms: 1) the parenchymal presenting with meningoencephalitis and meningomyelitis and 2) the neurovascular presenting with large cerebral infarcts, intracranial and subarachnoid hemorrhage, subdural hematoma and venous sinus thrombosis. Predilection to subdural hematoma or hygroma is characteristic for neurological involvement in MAP in comparison to other vasculpathies and vasculitides. Peripheral nervous system manifestations are less common and include polyradiculopathy, neuropathy, and myopathy. CSF analysis usually shows mild to moderate pleocytosis, increased protein content, and normal glucose. Brain MRI may reveal cortical, subcortical and deep white matter ischemic lesions with possible nodular, leptomeningeal, dural, or ependymal enhancement. Spinal cord MRI may reveal patchy lesions from the periphery to the center or cord atrophy in progressive course. Neurological involvement in MAP has a grave prognosis. The interval from onset of papulosis to death averages two years in patients with neurological involvement. There is no confirmed treatment for MAP but there are promising reports with eculizumab and treprostinil.

Degos disease: a case report and review of the literature.

BACKGROUND: Degos disease is a very rare syndrome with multisystem vasculopathy of unknown cause. It can affect the skin, gastrointestinal tract, and central nervous system. However, other organs such as the kidney, lungs, pleura, and liver can also be involved. CASE PRESENTATION: A 35-year-old Hindu woman presented to our dermatology outpatient department with complaints of depigmented painful lesions. A skin punch biopsy taken from the porcelain white atrophic papules which revealed features of Degos disease. CONCLUSION: The diagnosis of Degos disease is usually based on the presence of the pathognomonic skin lesions and a tissue biopsy demonstrating a wedge-shaped area of necrosis with thrombotic occlusion of the small arterioles. No specific treatment is currently available for this disease.

Degos disease: A radiological-pathological correlation of the neuroradiological aspects of the disease.

Malignant atrophic papulosis (Degos disease) is an unusual thrombotic microangiopathy of uncertain etiology. The disease characteristically involves the skin and internal organs, with nervous system involvement more common in children. We present a case with diverse neurological manifestations including cranial nerve palsies, gait instability, and urinary incontinence. The patient also developed white papular lesions on her lower extremities and back. Magnetic resonance imaging (MRI) demonstrated progressive intracranial and spinal abnormalities. Despite treatment with numerous biologic agents, the patient had persistent clinical deterioration and expired one month after admission. We highlight the extensive neurologic manifestations of Degos disease correlated with neuroradiological imaging and pathological features. Nervous system involvement in Degos disease requires careful neurologic and dermatologic exam with central nervous system (CNS) magnetic resonance imaging to distinguish it from non-organic etiologies of similar symptoms.

Chronic pleuritis leading to severe pulmonary restriction: a rare complication of Degos disease.

This case demonstrates chronic fibrosing pleuritis, as a rare pulmonary aetiology for mortality in patients with Degos disease or malignant atrophic papulosis (MAP). Knowledge of this unusual complication will help physicians identify this entity early and provide appropriate treatment.Patients with MAP die from gastrointestinal and brain involvement within 2-3 years of diagnosis. This case is unique as the patient survived for 9 years and died secondary to respiratory failure, which had not been reported before. Our patient was a young man, diagnosed with MAP at the age of 17. His skin and gastrointestinal disease were controlled with eculizumab and parenteral treprostinil. The patient developed severe restrictive pulmonary disease, required ventilatory support, and died from respiratory failure. An autopsy revealed chronic fibrosis pleuritis. Longer surviving patients with MAP might suffer from significant respiratory disease. Pulmonary function test should be obtained to identify subclinical respiratory limitation.