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

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.

A Successful Steroid-Sparing Approach in Cronkhite-Canada Syndrome

“…6,9,10 An autoimmune etiology of CCS has been suggested and case reports have described the beneficial response of immunosuppressive therapies: azathioprine, anti-tumor necrosis factor antibody, cyclosporine, and sirolimus. 11–16 This case contributes additional experience to the limited literature on azathioprine as a viable steroid-sparing strategy in CCS.…”

mTOR signaling in hair follicle and hair diseases: recent progress

“…Fibrofolliculoma is related to FLCN and mTOR signaling ( 101 ). Cronkhite-Canada syndrome can induce alopecia, which may be benefited by the incorporation of sirolimus ( 102 ).…”