Exome Analysis for Cronkhite-Canada Syndrome: A Case Report

Cronkhite-Canada syndrome (CCS) is a rare disorder characterized by gastrointestinal polyps and ectodermal lesions, including alopecia. This case report describes an elderly female with CCS who experienced significant symptom improvement with albumin supplementation and prednisone. Exome sequencing of her colorectal adenoma revealed novel somatic mutations in USP24, KCNQ5, and FKBP10 genes, and elevated copy numbers in HPSE2, SPATA7, and ZC3H18 genes, suggesting potential genetic mechanisms underlying CCS. Further research with larger sample sizes is needed to confirm these findings and understand the disease's etiology.