Sirolimus in Refractory Cronkhite-Canada Syndrome and Focus on Standard Treatment

Catherine Langevin,Pierre Poitras,Jean-Maxime Picard,Raymond Leduc,Hugo Chapdelaine

doi:10.1177/2324709618765893

Abstract

Cronkhite-Canada syndrome is a rare syndrome consisting of extensive gastrointestinal polyposis and ectodermal changes including cutaneous hyperpigmentation, alopecia, and onychodystrophy. We report the case of a 45-year-old Caucasian male patient who failed multiple treatments over 2 years including steroids, azathioprine, adalimumab, and cyclosporine. He had recurrent and prolonged hospitalizations because of diarrhea, abdominal pain, weight loss, and malnutrition. Sirolimus was initiated with a significant clinical and endoscopic benefit apparent within, respectively, 2 and 8 weeks. An ongoing remission was achieved and maintained for over 6 months after prednisone tapering. We review the current evidence on treatment of Cronkhite-Canada syndrome and suggest the incorporation of sirolimus in that algorithm.

Highlights

Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by diffuse gastrointestinal hamartomatous polyposis and ectodermal changes including cutaneous hyperpigmentation, alopecia, and onychodystrophy
We report the case of a 45-year-old man with diarrhea, abdominal pain, weight loss, and malnutrition who was diagnosed with CCS and resisted to a panoply of treatments before responding to sirolimus
Frank improvement was noted at week 2 on sirolimus with resolution of abdominal pain and progressive restoration of the capacity to eat diarrhea (400-800 g per day) reappeared with oral feeding

Summary

Introduction

Cronkhite-Canada syndrome (CCS) is a rare noninherited condition characterized by diffuse gastrointestinal hamartomatous polyposis and ectodermal changes including cutaneous hyperpigmentation, alopecia, and onychodystrophy. We report the case of a 45-year-old man with diarrhea, abdominal pain, weight loss, and malnutrition who was diagnosed with CCS and resisted to a panoply of treatments before responding to sirolimus. He was diagnosed with CCS and put on prednisone 50 mg/day, which induced an initial clinical response.

Results

Conclusion