Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes

    December 2022 in “ Gastroenterology ”
    Joshua Kwon, Massimo Raimondo, Jana G. Hashash
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    TLDR A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
    A 54-year-old man presented with symptoms including weight loss, loss of taste, diarrhea, abdominal cramping, hair loss, skin hyperpigmentation, and nail changes. He was diagnosed with Cronkhite-Canada syndrome (CCS), a rare condition characterized by gastrointestinal polyps, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. Despite no family history of polypoid disorders, his clinical presentation and endoscopic findings of diffuse polyposis and inflammatory changes in the gastrointestinal tract led to this diagnosis. Initial treatment with oral prednisone and pantoprazole resulted in moderate improvement, but the addition of azathioprine led to significant clinical improvement, including weight gain and decreased stool frequency. CCS is associated with nutritional and electrolyte deficiencies due to chronic diarrhea and inflammation, and while its pathophysiology is not well-understood, immunosuppressive therapy has been found to be successful. Patients with CCS have an increased risk of colorectal cancer and require frequent endoscopic surveillance.
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