No abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare disease characterised by multiple venous malformations and haemangioma in the skin and visceral organs. The lesion often involves the cutaneous and gastrointestinal tract. Most common visceral organ affected is the GIT. Most predominant region involved in the GIT is small bowel. However, vascular lesions can occur anywhere from oral mucosa to anal canal. GIT bleed is relatively slow, resulting in minor, chronic and occult blood loss. The syndrome in the GIT may also present with severe complications such as rupture, volvulus, intussusceptions and even death. Cutaneous malformations are usually asymptomatic and do not require treatment. The treatment of GIT lesions is determined by the extent of intestinal involvement and severity of the disease. Most patients respond to supportive therapy such as iron supplementation and blood transfusion. Surgical resection, endoscopic sclerosis and laser photocoagulation have been proposed for more significant haemorrhage and severe complications. Here, we present a case of BRBNS in a 13-year-old girl involving the GIT especially the large bowel, presenting with the complaints of bleeding per rectum and iron deficiency anaemia. Initially, endoscopic sclerotherapy was performed, but to no response. Hence, proceeded with surgical resection.

Gastrointestinal stromal tumor (GIST) is the most common primary mesenchymal neoplasm of the gastrointestinal tract, and they are potentially malignant tumors with varied biological behavior. The objective of this study was to investigate the clinicopathological characteristics and prognostic factors of GISTs in our institution. Medical records of nine cases of GISTs diagnosed during January 2018 to March 2021 were reviewed. Details of patient demographics, clinical presentation, treatment details, and gross and histopathological features were noted. GISTs were commonly seen in stomach in 50–60-year age group with slight male preponderance. Abdominal pain was the most common symptom. Other sites encountered were colon, mesentery, peritoneum, and omentum. Most of the gastric GISTs were in low-risk group. Mean size of the tumor was 9.3 cm. Spindle cell type was the most common histological pattern with diffuse hypercellularity subtype. All cases were positive for CD117 (c-kit). One case was inoperable due to dissemination in abdominal cavity, surgery was done in all other cases, and imatinib therapy was given for high-risk cases postoperatively. GIST is uncommon with diverse clinical presentation. CD117 is a very sensitive marker for making a diagnosis of GIST. Successful management of GISTs requires complete surgical resection and adjuvant imatinib therapy for intermediate- and high-risk patient.