Cronkhite-Canada syndrome: a report of two familial cases

Abstract

Cronkhite-Canada syndrome (CCS) is a rare syndrome first described in 1955. Since then, over 400 cases worldwide have been reported in the literature. The disease is characterized by diffuse gastrointestinal polyposis, dystrophic changes of the fingernails, alopecia, cutaneous hyperpigmentation, diarrhea, weight loss, and abdominal pain. An autoimmune etiology is suspected. The workup is based on history and physical examination, imaging, and endoscopy with biopsy to confirm gastrointestinal polyposis. Nutritional support and corticosteroids are the mainstay of treatment. Here, we describe two familial cases-one a 50-year-old male patient with chronic diarrhea and epigastric pain since 1.5 years with hyperpigmentation of the hand and foot, alopecia, anorexia, hypogeusia, and weight loss; other case was his 22-year-old son who was asymptomatic, with mild alopecia and hyperpigmentation over his face and hands. Gastrointestinal endoscopy showed multiple polyps in both the cases.