2017 Volume 59 Issue 5 Pages 1310-1315
An 18-year-old man was referred to our department because of diarrhea and weight loss. His medical history was significant for anhidrosis at the age of 3 months. He presented with hypodontia, sparse hair, and hypoplastic sweat glands. Colonoscopy was performed. Because ulcerative colitis was suspected, he was treated with mesalazine and prednisolone. A second colonoscopy was performed nine months after the initial diagnosis because of relapse of colitis, which revealed longitudinal ulcers in the sigmoid and ascending colon. The diagnosis of Crohn’s disease was made. He was treated with infliximab(IFX) and 6-mercaptopurine(6-MP), which provided symptom resolution. Since clinical signs of anhidrotic ectodermal dysplasia were noted, anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) was highly suspected. EDA-ID is caused by mutations in the gene encoding nuclear factor-κB essential modulator protein (NEMO). Inflammatory colitis in patients with EDA-ID is hence called NEMO colitis and is a rare condition. Here we report a case of this rare pathological entity.
