• Internal medicine · Nov 2021

    Case Reports

    Cartilage-hair Hypoplasia Complicated with Liver Cirrhosis Due to Chronic Intrahepatic Cholestasis: A Case Report.

    • Taro Kogami, Haruki Uojima, Takasuke Ebato, Yuki Bando, Akiyoshi Hoshino, Makoto Saegusa, Makoto Ohbu, Shuichiro Iwasaki, Naohisa Wada, Kousuke Kubota, Yoshiaki Tanaka, Hisashi Hidaka, Takahide Nakazawa, Akitaka Shibuya, and Wasaburo Koizumi.
    • Department of Gastroenterology, Internal Medicine, Kitasato University School of Medicine, Japan.
    • Intern. Med. 2021 Nov 1; 60 (21): 3427-3433.

    AbstractWe herein report a rare case of cartilage-hair hypoplasia (CHH) complicated with liver cirrhosis. A 20-year-old Japanese man with CHH was found incidentally to have liver cirrhosis and an esophageal varix. This patient had been treated for infections due to immunodeficiency since early childhood. He ultimately died of liver failure at 31 years of age. An autopsy revealed an abnormality of the interlobular bile ducts and intrahepatic cholestasis. Liver cirrhosis was thought to have been caused by chronic intrahepatic cholestasis due to biliary duct hypoplasia and changes in the intestinal microbiome. Therefore, CHH may cause biliary cirrhosis due to multiple effects.

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