Case Report: Pediatric Malignant Atrophic Papulosis With Small Bowel Perforation and Positivity of Anticardiolipin Antibody.
Ontology highlight
ABSTRACT:
SUBMITTER: Wang HQ
PROVIDER: S-EPMC8703221 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Malignant atrophic papulosis (MAP) is a rare type of obliterating vasculopathy that can present as pure cutaneous lesions or a systemic entity affecting multiple organs. Systemic disease, such as gastrointestinal or central nervous system involvement, may predispose the patients to poorer or even fatal outcomes. We present a 30-year-old female patient with systemic manifestation of MAP 10 days after delivery of a full-term pregnancy who subsequently developed motor aphasia and intestinal perforation. The patient was administrated empirical treatment with an antiplatelet, anticoagulant, methylprednisolone sodium succinate and alprostadil. Antibiotics were administrated due to intestinal perforation and secondary sepsis. Despite all treatment, the patient died a week later. We summarized all the previous reports of MAP based on thorough review of previous published work. Overall, this is the first patient with MAP combined with motor aphasia and intestinal perforation and may provide insights for future studies on the treatment of this disease.
| S-EPMC6001538 | biostudies-literature
Project description:BackgroundMalignant atrophic papulosis (Köhlmeier-Degos disease; MAP) is an uncommon endotheliopathy with pathological findings similar to the vascular lesions of systemic sclerosis. These two disorders can overlap. When associated with visceral lesions, MAP has been considered almost universally and rapidly fatal. A recent report described dramatic response to treatment with eculizumab, but disease progression after initial response to therapy has occurred.MethodsWe describe the clinical and pathologic findings in two patients, one with MAP and the other with MAP like lesions, who received treatment with subcutaneous treprostinil. One patient had an overlap syndrome with features of systemic lupus erythematosus (SLE) and scleroderma and severe pulmonary hypertension. She also had very extensive MAP like cutaneous lesions. There was no evidence of central nervous system (CNS) disease and laparoscopy revealed no visible MAP lesions on the serosa of the small bowel. The second patient had experienced life-threatening disease progression despite ongoing eculizumab therapy. During this treatment, he had developed CNS and bladder involvement with neurologic symptoms and gross hematuria.ResultsPatient one was placed on therapy with treprostinil for her pulmonary hypertension, but in the months subsequent to initiation of treatment, dramatic and complete resolution of cutaneous MAP like lesions and disabling digital pain occurred. In patient two, therapy with treprostinil was temporally associated with clearing of hematuria, resolution of CNS symptoms and improvement in MRI findings.ConclusionsTreprostinil may offer a second effective treatment approach to individuals with MAP or "rescue therapy" to those in whom eculizumab treatment has failed to maintain suppression of disease activity.
| S-EPMC3636001 | biostudies-literature
Project description:BackgroundImmune checkpoint inhibitors (ICIs) have emerged as paradigm shifting treatment options for a number of cancers. Six antibodies targeting the immune checkpoint proteins programmed cell death 1 (PD-1), programmed cell death 1 ligand 1 (PD-L1) or cytotoxic T-lymphocyte associated protein 4 (CTLA4) have been approved. In some cases, response rates have been impressive, but not uniformly so and not consistently; similarly, toxicity to this class of therapeutic is often unpredictable and can be life threatening. Predicting treatment response and toxicity are two main obstacles to truly individualize treatment with ICIs. One of the most severe and life-threatening adverse events is colitis induced colonic perforation, estimated to occur in 1.0 to 1.5% of patients treated with ICIs. An important question to address is, under what circumstances is it appropriate to reinitiate ICI treatment post-bowel perforation?Case presentationThe patient is a 62-year-old woman, who presented with stage IV lung cancer. Immunohistochemical staining indicated that 80% of the patient's tumor cells expressed PD-L1. The patient was started on a three-week cycle of pembrolizumab. Subsequent reducing in tumor burden was observed within ten weeks. Initially, pembrolizumab was tolerated fairly well, with the exception of immunotherapy related hypothyroidism. However, the patient experienced a second, more serious immune-related adverse event (irAE), in the form of enteritis, which led to small bowel perforation and necessitated exploratory laparotomy. The concerning part of the small bowel was resected, and a primary anastomosis was created. Based on the pathological and surgical findings, the patient was diagnosed with pembrolizumab-associated small bowel perforation. The patient recovered well from surgery and, considering the patient's remarkable response to treatment, a collective decision was made to reinitiate pembrolizumab on post-operative day twenty-eight. The patient is continuing her immunotherapy with ongoing partial response and is able to continue her full-time job.ConclusionsThis case report highlights the challenges of identifying patients likely to respond to ICIs and those that are likely to experience irAEs and it discusses the impressive work that has been done to start to address these challenges. Lastly, the topic of reinitiating pembrolizumab treatment even after colonic perforation is discussed.
| S-EPMC6482547 | biostudies-literature
Project description:BackgroundDegos 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.ObjectivesThe 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.MethodsWe 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.ResultsWe 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).ConclusionsElevated 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.
| S-EPMC8101154 | biostudies-literature
Project description:PurposeAtrophic visceral myopathy is a pathological diagnosis characterized by atrophy of the smooth muscle layers of the viscera with intact ganglia. Rarely, it can present acutely as an intestinal pseudo-obstruction. We describe a rare case report and explore how this diagnosis can be distinguished from other forms of intestinal obstruction.Case descriptionA 60-year-old male with a past medical history of hypothyroidism presented to the emergency department with a two-day history of worsening abdominal distention and pain associated with nausea and vomiting. Upon evaluation patient was found to have tachycardia, with abdominal distention and localized tenderness with peritonitis. Computed tomography demonstrated large bowel obstruction, likely caused by sigmoid volvulus. The patient underwent emergent laparotomy. Intra-operatively, the entire colon was found to be extremely dilated and redundant. With a working diagnosis of recurrent sigmoid volvulus causing intermittent large bowel obstruction, a sigmoid colectomy and primary anastomosis was performed. Pathology revealed atrophic visceral myopathy, with an extremely thin colonic wall and atrophic circumferential and longitudinal muscularis propria without inflammation or fibrosis. The ganglion cells and myenteric plexus were unaffected. Post-operatively, the patient developed prolonged ileus requiring nasogastric decompression and parenteral nutrition. The ileus resolved with pro-kinetic agents, and patient was discharged home on post-operative day fifteen.ConclusionsAtrophic visceral neuropathy is a rare cause of intestinal pseudo-obstruction. While often presenting with chronic obstruction in younger populations, we present a rare late-onset acute presentation that may have been secondary to underlying hypothyroidism.
| S-EPMC5350498 | biostudies-literature
Project description:The role of palliative surgery in the management of acute complications in patients with disseminated malignancy remains controversial given the complexity of assessing acute surgical risk and long-term oncologic outcome. With the emergence of checkpoint blockade immunotherapy, there appears to be an increasing role for historically palliative procedures as a bridge to systemic immunotherapy. This is especially evident in advanced microsatellite instability-high (MSI-H) colorectal cancer where malignant obstruction and fistula formation are more common and where immunotherapy with checkpoint blockade (anti-PD-1/PD-L1, anti-CTLA-4) has a high response rate with potential for favorable oncologic outcomes. We present a series of three patients with MSI-H metastatic colorectal cancer complicated by malignant bowel obstruction and fistula formation, who having progressed on standard chemotherapy, underwent palliative intervention as a bridge to immune checkpoint blockade with durable and clinically meaningful anti-cancer responses. These cases highlight the need to re-evaluate the role of historically palliative operations in the setting of disease progression for immunotherapy-responsive tumors.
| S-EPMC7186327 | biostudies-literature
Project description:Multicentric reticulohistiocytosis (MRH) is a rare systemic disease of non-Langerhans cell histiocytosis. A number of studies in the literature have documented that it can coexist with malignancy or autoimmune disease, making it difficult to determine the most appropriate therapy. Here, we present a case study of MRH associated with posterior mediastinal adenosquamous carcinoma along with antinuclear antibody positivity and lupus anticoagulant positivity. The patient experienced 6 months of clinical benefit after surgical resection and chemoradiotherapy of the mediastinal malignancy. This case adds to the available literature on multicentric reticulohistiocytosis associated with different types of malignancy and provides supplementary clinical data on the coexistence of this syndrome with malignancy and immune system abnormalities. To the best of our knowledge, this is the first case study describing MRH accompanied by posterior mediastinal adenosquamous carcinoma and lupus anticoagulant positivity. The unknown aetiology and polymorphic clinical presentation of MRH warrants further investigation.
| S-EPMC8777097 | biostudies-literature
Project description:INTRODUCTION:Mortality after esophageal perforation is high irrespective of the treatment modality. The rarity of traumatic esophageal perforations has made it difficult to conduct comprehensive studies that can answer pertinent questions with regard to management. PRESENTATION OF CASE:We report a case of through and through thoracic esophageal injury caused by an assailant's arrow in a young physically active male adult. Diagnosis was made on-table. He successfully underwent primary repair of the esophageal injury 16?h post injury via a left thoracotomy. Recurrent lung collapse and pleural effusion was managed with tube thoracostomy and chest physiotherapy. DISCUSSION:Esophageal perforations occur infrequently and may produce vague symptoms leading to diagnostic and therapeutic delays. High index of suspicion particularly in penetrating chest trauma followed by relevant investigations may reduce delay. Principles of management include treatment of contamination, wide local drainage, source control and nutritional support. Source control is achieved surgically or through endoluminal placement of stents. Surgical options include primary repair, creation of a controlled fistula by T-tube or esophageal exclusion. CONCLUSION:Primary repair of traumatic injury to a healthy esophagus is feasible for cases diagnosed early and without significant mediastinal contamination as in our case. Associated injuries are more likely in such cases to lead to increased morbidity and prolonged hospital stay and must be handled carefully.
| S-EPMC7248577 | biostudies-literature
Project description:A 38-year-old Chinese Han man presented with fever, headache and difficulty in language expression. The initial cerebrospinal fluid (CSF) analysis revealed lymphocytic-predominant pleocytosis with a normal glucose level, and magnetic resonance imaging (MRI) showed extensive cortical edema in left cerebral hemisphere. He received the antiviral treatment. However, one week later, he developed psychomotor agitation and seizures. Lumbar puncture was performed again and further testing for autoantibodies was conducted in both the CSF and serum. His CSF was positive for anti-myelin oligodendrocyte glycoprotein (MOG), anti-N-methyl-D-aspartate receptor (NMDAR) and anti-metabotropic glutamate receptor 5 (mGluR5) antibodies. He was diagnosed with overlapping syndrome of MOG antibody-related cerebral cortical encephalitis and anti-NMDAR, anti-mGluR5 autoimmune encephalitis. He received intravenous methylprednisolone and immunoglobulin, followed by oral prednisone and mycophenolate mofetil. His psychomotor agitation and seizures were relieved, and he gradually recovered his language expression ability. We reported for the first time a case that was positive for coexistent MOG, NMDAR, mGluR5 antibodies, which was initially misdiagnosed as infectious meningoencephalitis. This case widens the clinical spectrum of the overlapping syndrome recently reported.
| S-EPMC9389075 | biostudies-literature
Project description:BackgroundAnticardiolipin (aCL) and anti-?2 glycoprotein I (a?2GPI) immunoglobulin (Ig) G/IgM antibodies are 2 of the 3 laboratory criteria for classification of antiphospholipid syndrome (APS). The threshold for clinically relevant levels of antiphospholipid antibodies (aPL) for the diagnosis of APS remains a matter of debate. The aim of this study was to evaluate the variation in cutoffs as determined in different clinical laboratories based on the results of a questionnaire as well as to determine the optimal method for cutoff establishment based on a clinical approach.MethodsThe study included samples from 114 patients with thrombotic APS, 138 patients with non-APS thrombosis, 138 patients with autoimmune disease, and 183 healthy controls. aCL and a?2GPI IgG/IgM antibodies were measured at 1 laboratory using 4 commercial assays. Assay-specific cutoff values for aPL were obtained by determining 95th and 99th percentiles of 120 compared to 200 normal controls by different statistical methods.ResultsNormal reference value data showed a nonparametric distribution. Higher cutoff values were found when calculated as 99th rather than 95th percentiles. These values also showed a stronger association with thrombosis. The use of 99th percentile cutoffs reduced the chance of false positivity but at the same time reduced sensitivity. The decrease in sensitivity was higher than the gain in specificity when 99th percentiles were calculated by methods wherein no outliers were eliminated.ConclusionsWe present cutoff values for aPL determined by different statistical methods. The 99th percentile cutoff value seemed more specific. However, our findings indicate the need for standardized statistical criteria to calculate 99th percentile cutoff reference values.
| S-EPMC6611479 | biostudies-literature