2001 Volume 59 Issue 2 Pages 56-59
The patient was a 39-year-old male who had noticed small papules on his fingers since 1989. In October 1999, He recognized multiple papules spreading over the area including the face, neck and axillary fossae. He visited the department of dermatology in August 2000. Cowden's disease was suspected and a barium enema was conducted. Multiple small elevations were observed in the rectum and the patient was referred to this depertment for further examination. Colonoscopy revealed discolored polyps crowed in the area ranging from the lower to upper portion of the rectum as well as multiple polyps in the lower portion of the esophagus and the area including the body and fornix of the stomach and the descendind limb of the duodenum. PTEN gene analysis disclosed the point mutation from TGT to TAT in exon 5 codon 124 and the mutation from T15 repeats to T16 repeats in intron 7. We have mentioned the PTEN gene in the present study because many reseachers have recently direcular attention to PTEN gene mutation as a causative factoe of Cowden's disease.
