The skin as a window to the gut: A case of carcinoid syndrome

Abstract

Key Clinical MessageNeuroendocrine tumors (NETs) are a group of uncommon neoplasms derived from enterochromaffin or Kulchitsky cells (that secrete serotonin or other molecules into the bloodstream), which can manifest with symptoms of hormonal overproduction, namely carcinoid syndrome (CS). This can be the presenting feature in patients with advanced disease. We report the case of a 66‐year‐old woman presenting with chronic diarrhea, facial venous telangiectasia and elevated urinary 5‐hydrocyindoleacetic acid levels. A 68‐Ga DOTATOC PET/CT scan revealed an ileal mass and lesions consistent with liver, ovary and bone metastasis. A liver biopsy confirmed the diagnosis of well‐differentiated NET G1. Therapy with somatostatin analogs achieved symptom control, but the liver disease progressed and the patient passed away after 2 years of follow‐up. The challenge of diagnosing CS resides in its heterogeneous manifestations, which may range from mild to life‐threatening conditions. In this case, the cutaneous findings of venous telangiectasia strongly pointed to the correct diagnosis. Treatment can also be difficult due to refractory symptoms and inevitable progression of disease, highlighting the importance of early detection and thorough disease staging.