Anal Mucinous Adenocarcinoma Presenting as a Superficial Lesion Without Luminal Involvement.

Anal mucinous adenocarcinoma arises from mucin-secreting columnar epithelium within anal glands and is extremely rare, comprising 2%-3% of all gastrointestinal malignancies. We present a unique case of 65-year-old developmentally disabled man with complaint of rectal pain. Examination showed an excoriated erythematous perianal region with mucinous film and subdermal nodularity. Surgical pathology of the lesion revealed poorly differentiated mucinous adenocarcinoma of intestinal type. Subsequent colonoscopy was without findings of intraluminal lesions. He established with oncology and later underwent a positron emission tomography scan that showed extensive metastasis. This case highlights a unique presentation of de novo mucinous adenocarcinoma with luminal sparing.

Colonizing the Unlikely: Brachyspira in an Immunocompetent Patient.

Chronic diarrhea is a common condition that medical professionals often encounter. We present an unusual case of chronic diarrhea in a relatively young, immunocompetent man that was attributed to Brachyspira. The patient's clinical presentation was not specific, and he underwent workup for common infectious, inflammatory, and autoimmune causes, all unrevealing. During colonoscopy, no abnormalities were detected; however, histopathology revealed the presence of Brachyspira. Following a course of metronidazole, the patient showed marked improvement in his diarrhea. It is worth noting that the patient's social history did not align with the established risk factors mentioned in the existing literature.

Genetics of Gallstone Disease and Their Clinical Significance: A Narrative Review.

Gallstone (GS) disease is common and arises from a combination of genetic and environmental factors. Although genetic abnormalities specifically leading to cholesterol GSs are rare, there are clinically significant gene variants associated with cholesterol GSs. In contrast, most bilirubin GSs can be attributed to genetic defects. The pathogenesis of cholesterol and bilirubin GSs differs greatly. Cholesterol GSs are notably influenced by genetic variants within the ABC protein superfamily, including ABCG8, ABCG5, ABCB4, and ABCB11, as well as genes from the apolipoprotein family such as ApoB100 and ApoE (especially the E3/E3 and E3/E4 variants), and members of the MUC family. Conversely, bilirubin GSs are associated with genetic variants in highly expressed hepatic genes, notably UGT1A1, ABCC2 (MRP2), ABCC3 (MRP3), CFTR, and MUC, alongside genetic defects linked to hemolytic anemias and conditions impacting erythropoiesis. While genetic cases constitute a small portion of GS disease, recognizing genetic predisposition is essential for proper diagnosis, treatment, and genetic counseling.

A Novel Home for Hemangiomas: Sclerosing Hemangioma in the Pancreas.

Pancreatic hemangiomas, predominantly in female patients, are rare benign vascular tumors. We report a unique case of an incidentally discovered pancreatic sclerosing hemangioma. The patient's clinical presentation and imaging were concerning for an abdominal mass. Endoscopic ultrasound and histopathology confirmed the pancreatic sclerosing hemangioma. Because there were no complications, surgery was not performed, and the patient was monitored. Biopsy confirmation is crucial to rule out malignancy and avoid unnecessary surgical resection.

A Case of Herpes Simplex Virus Colitis in an Immunosuppressed Patient.

Herpes simplex virus (HSV) can cause severe disseminated infections in immunocompromised patients. Gastrointestinal tract involvement seldom includes the colon. We present a rare case of disseminated cutaneous HSV infection with concomitant colonic involvement in an immunosuppressed patient. The patient's clinical presentation and computerized tomography (CT) findings were concerning for colitis. She failed to improve on antibiotic therapy and subsequently underwent flexible sigmoidoscopy. Gross findings and histopathology were consistent with herpes simplex virus colitis. It is essential to recognize this pathology in immunocompromised patients to evaluate the need to hold immunosuppressive therapy and ensure successful treatment to prevent fatal outcomes.

Small Bowel Volvulus as Delayed Presentation of Undiagnosed Crohn's Disease: A Case Report.

INTRODUCTION: Emergency department (ED) visits related to flare-ups of inflammatory bowel disease (IBD) are becoming more prevalent. There are many potentially dangerous complications and sequelae of uncontrolled IBD. CASE REPORT: We report a case of a middle-aged woman who presented with a few hours of severe abdominal pain, nausea, and vomiting. Given her hemodynamic instability, she was sent urgently for computed tomography, which showed an incomplete small bowel malrotation, mesenteric volvulus, and high-grade small bowel obstruction with evolving ischemia. The patient underwent exploratory laparotomy to resect most of her small intestines. Biopsies later revealed active Crohn's disease. CONCLUSION: Patients with flare-ups of IBD are common in the ED, but very few present with a midgut volvulus later in life. Our case is unique and adds to the literature due to the dramatic consequences of undiagnosed Crohn's disease in a patient with intermittent symptoms and extensive workup spanning over two decades.

Natural history, pathophysiology and evaluation of gastroesophageal reflux disease.

Gastroesophageal reflux disease (GERD) is one of the most common diseases encountered by both internists and gastroenterologists. GERD can cause a wide variety of symptoms ranging from heartburn and regurgitation to more atypical symptoms such as cough, chest pain, and hoarseness. The diagnosis is often times made on the basis of history and clinical symptomatology. The prevalence of GERD is currently estimated to be 8-33% with the incidence of disease only expected to increase over time. Although most cases of GERD can be diagnosed based on symptoms and clinical presentation, the diagnosis of GERD can be challenging when symptoms are atypical. In this review, we provide a comprehensive summary of the epidemiology, pathophysiology, evaluation and diagnosis of gastroesophageal reflux disease.