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.

Atrophic papulosis (Köhlmeier-Degos disease) in children and adolescents-A cross-sectional study and literature review.

BACKGROUND: Atrophic papulosis (Köhlmeier-Degos disease, Degos disease) is a rare thrombo-obliterative microangiopathy of unknown pathogenesis. It usually affects people between the ages of 20 and 50. However, it can occur at any age. The condition is considered uncommon in children. OBJECTIVE: Clinical characterization of paediatric patients with atrophic papulosis. METHODS: Single-centre prospective cohort study with data derived from the international Degos Disease Registry collected between 2000 and 2021. RESULTS: Among 96 registered patients with atrophic papulosis fulfilling the criteria, 19 were aged 0 to completed 17 years at the time of onset. The median age at the time of onset was 5 years, ranging from 0 to 1 years for girls to 8 years for boys. In contrast to adult patients (male-to-female ratio 1:2.2), there was a male predominance in paediatric patients with a male-to-female ratio of 1.7:1. Systemic involvement, in particular gastrointestinal, central nervous system and cardiac, was more frequent in children than in adult patients. There were no statistically significant differences between family history, multisystem involvement, mortality and median survival time in the two groups. CONCLUSIONS: Atrophic papulosis has some distinct features in the paediatric population. It presents an important and still under-recognized problem. Therefore, it is mandatory to pay attention to the typical skin lesions in combination with neurological or gastrointestinal symptoms in order to make a prompt and accurate diagnosis.

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.

Atrophic papulosis (Köhlmeier-Degos disease) revisited: a cross-sectional study on 105 patients.

BACKGROUND: Atrophic papulosis is a very rare vascular disease of unknown pathogenesis, mostly described by case reports. OBJECTIVE: To assess demographic data and prognosis in patients with atrophic papulosis. METHODS: A single-centre study was performed on a series of 105 patients with atrophic papulosis, diagnosed 2000-2021. Patients were referred and diagnosed at the evaluation centre and patients' clinical data were provided by the Degos Support Network and evaluated by the authors for confirming the diagnosis of skin lesions and fulfilling the diagnostic criteria for a malignant subset. A unique set of variables were collected from all patients. RESULTS: The mean age of disease onset was 33.3 ± 18.3 years and the male-to-female ratio was 1:1.6. The family history rate was 8.1%. The classification into a benign, merely cutaneous disease (benign atrophic papulosis), and malignant atrophic papulosis, associating cutaneous and visceral lesions was confirmed due to their striking prognostic difference. Benign atrophic papulosis was detected in 41% of the patients with no deaths occurring throughout the follow-up period (median 3.00 years; range 0.13-23). Malignant atrophic papulosis was reported in 59% of patients with 47.5% multisystemic involvement and a median skin lesion onset to systemic symptoms duration of 0.54 years (-6 to 20). The gastrointestinal tract and central nervous system were equally involved; however, the neurological involvement-caused death rate was slightly higher. The disease-specific mortality rate of malignant atrophic papulosis was 22.6%. CONCLUSIONS: Atrophic papulosis presents with a striking prognostic difference of benign - merely cutaneous - involvement or quickly developing - into less than 1 year - malignant subset, associating cutaneous and visceral lesions and multiorgan involvement in 1/2 of the patients, which leads to premature, disease-specific mortality in 1/4 of the cases. Central nervous system and gastrointestinal tract complications are the major reasons for disease-specific death. Over the years, the diagnosis of severe nervous system involvement has become more common.

Gastrointestinal Kohlmeier-Degos disease: a narrative review.

INTRODUCTION: Kohlmeier-Degos (K-D) disease is a rare obliterative vasculopathy that can present as a benign cutaneous form or with potentially malignant systemic involvement. The gastrointestinal tract is most frequently involved in systemic disease and mortality is often related to bowel perforations. Herein, we provide information to providers and patients regarding gastrointestinal K-D symptomology, pathology, treatment, and diagnosis, with a focus on the importance of timely diagnostic laparoscopy. We present three new cases of gastrointestinal K-D to highlight varying disease presentations and outcomes. BODY: Based on reviewed reports, perforation is preceded by at least one gastrointestinal symptom: abdominal pain/cramping, anorexia/weight loss, vomiting, diarrhea, nausea, gastrointestinal bleeding, obstipation, constipation, and abdominal fullness. Perforation most commonly occurs in the small intestine and often results in sepsis and death. Although underutilized, laparoscopy is the most sensitive and specific diagnostic technique, demonstrating serosal porcelain plaques similar to those on the skin and characteristic for K-D. The combination of eculizumab and treprostinil is presently the most effective treatment option for gastrointestinal K-D. The pathology of gastrointestinal K-D is characterized by an obliterative intimal arteriopathy eventuating in occlusive acellular deposits of mucin and collagen along with an extravascular pauci-cellular sclerosing process resembling scleroderma confined to the subserosal fat. C5b-9 and interferon-alpha are both expressed in all caliber of vessels in the affected intestine. While C5b-9 blockade does not prevent the intimal expansion, enhanced type I interferon signaling is likely a key determinant to intimal expansion by, causing an influx of monocytes which transdifferentiate into procollagen-producing myofibroblast-like cells. CONCLUSION: Prompt laparoscopic evaluation is necessary in any K-D patient with an abdominal symptom to facilitate diagnosis and treatment initiation, as well as to hopefully decrease mortality. Those with gastrointestinal K-D should start on eculizumab as soon as possible, as onset of action is immediate.

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.

A fatal case of malignant atrophic papulosis in a pediatric patient.

A 17-year-old Caucasian boy presented with progressive left-sided weakness, transient slurred speech, and skin lesions characterized by 3-5 mm, pink, asymptomatic papules with white atrophic centers on his central abdomen, back, and lower extremities. Skin biopsy confirmed the diagnosis of malignant atrophic papulosis, a rare vasculopathy that leads to the occlusion of small- and medium-sized arteries. He was treated with cyclophosphamide, eculizumab, treprostinil, pentoxifylline, heparin, and acetylsalicylic acid. Despite the aggressive immunosuppression, humanized monoclonal antibodies, and antiplatelet therapy, he died two months after presentation. We report this case to highlight diagnostic features, as well as to highlight the importance of early diagnosis and treatment.

Malignant atrophic papulosis (Degos disease).

Malignant atrophic papulosis (Degos disease) is a rare syndrome of multiple-system vascular diseases with unknown etiology. It can affect the skin, gastrointestinal tract and central nervous system. Here, we report a 58-year-old woman with extensive porcelain-white atrophic papules. Based on the clinical manifestations, skin biopsy and colonoscopy, a diagnosis of malignant atrophic papulosis was confirmed.

Clinical and laboratory prognosticators of atrophic papulosis (Degos disease): a systematic review.

BACKGROUND: Degos disease is a rare vascular disorder with a cutaneous-limited form, benign atrophic papulosis (BAP), and a systemic variant, malignant atrophic papulosis (MAP). Despite the poor prognosis of MAP, no study has established features associated with systemic disease. OBJECTIVES: The aims of this systematic review were to: (1) summarize clinical features and treatments implemented for patients with MAP and BAP (2) identify clinical and laboratory factors associated with the development of MAP, compared to BAP. METHODS: We systematically searched MEDLINE and Embase from inception to April 2020. Demographic and clinical features of Degos patients were presented descriptively; multivariable logistic regression was performed to identify associations with MAP. RESULTS: We identified 99 case studies, comprising 105 patients. MAP (64%) had a 2.15 year median survival time from cutaneous onset, most often with gastrointestinal or central nervous system involvement. We found that elevations in either of erythrocyte sedimentation rate (ESR) or C-reactive protein (CRP) were associated with systemic involvement (OR 2.27, p = 0.023). Degos secondary to an autoimmune connective tissue disease was found to be inversely associated with MAP (OR 0.08, p = 0.048). CONCLUSIONS: Elevated ESR or CRP is associated with MAP and may be a predictor of systemic involvement for patients with Degos disease. In addition, secondary Degos disease is associated with a favourable prognosis. Clinicians should be aware of the differences between primary and secondary Degos and the utility of ESR or CRP in identifying disease evolution to systemic involvement. The utility of ESR and CRP to identify systemic involvement should be further explored.

Worsening skin lesions but no diagnosis.

A diagnosis was arrived at by doing something that the patient's other doctors hadn't: perform a biopsy.

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.

Juvenile dermatomyositis resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination of cyclophosphamide and rituximab: case-based review.

Dermatomyositis (DM) is a multi-system disease that results in chronic inflammation principally of the skin and striated muscle. Small blood vessel injury in the GI tract has been described in dermatomyositis, manifesting as bleeding, ulceration, pneumatosis intestinalis, and ultimately perforation. Recent histopathological studies have shown deposits in the capillaries of the skin, gastrointestinal tract, and brain of patients with dermatomyositis similar to that found in patients with Degos disease, suggesting these disease processes are closely related or represent varying degrees of severity on the same pathologic spectrum. We report a case of juvenile dermatomyositis (JDM) resembling late-stage Degos disease with gastrointestinal perforations successfully treated with combination rituximab and cyclophosphamide therapy. We systematically reviewed the literature detailing the medical and surgical treatments for gastrointestinal perforation in dermatomyositis, Degos-like dermatomyositis, and Degos disease. In addition to our case, as of October 2019, we identified 36 cases describing gastrointestinal perforation in patients with underlying dermatomyositis, 5 cases of Degos-like dermatomyositis and 17 cases of idiopathic Degos disease. Corticosteroid therapy was used widely for dermatomyositis and Degos-like dermatomyositis, while antiplatelet and anticoagulant medications were chiefly used for patients with idiopathic Degos disease. However, there were no cases that detailed the successful treatment of dermatomyositis or Degos disease with gastrointestinal perforation with rituximab alone or combined with cyclophosphamide. We report that rituximab, in combination with cyclophosphamide, can be used as a novel adjunctive therapy to successfully treat dermatomyositis with Degos-like gastrointestinal perforation.