Pachydermoperiostosis associated with juvenile polyps of the stomach and gastric adenocarcinoma

Abstract

Pachydermoperiostosis (PDP) is a rare syndrome, and the presence of digital clubbing, radiographic periostosis, and coarse facial features are the main diagnostic criteria. Here, we report patient with the primary form of PDP in whom juvenile polyps and gastric cancer developed within 9 years of follow-up. A 27-year-old Japanese man, diagnosed as having the primary form of PDP at 14 years of age, was referred to our department for assessment of chronic anemia. On upper gastrointestinal endoscopic examination, multiple polypoid lesions with a huge polyp were found in the stomach, and biopsy findings indicated juvenile polyps, although no polypoid lesion had been present at the age of 18 years. Bleeding from these polyps was suspected, and endoscopic mucosal resection of the polypoid lesions was performed. Histology of the huge polyp showed hamartoma, adenoma, and adenocarcinoma in part. This is the first case report of the primary form of PDP associated with gastric cancer. In this patient, juvenile polyps and gastric cancer developed within 9 years of follow-up, indicating that the primary form of PDP may be a high risk factor for gastric cancer, and that periodical follow-up with upper gastrointestinal endoscopy is important.

Gastric Juvenile Polyposis with High-Grade Dysplasia in Pachydermoperiostosis

“…Finally, involvement of the upper digestive tract in PDP may be underestimated as most patients are asymptomatic and thus do not undergo endoscopic examination. Since PDP is often associated with gastric changes and occasionally with gastric premalignant lesions, an endoscopic follow-up seems to be important in patients affected with PDP who complain of upper digestive symptoms [10]. In our patient, the uncommonly severe anemia (hemoglobin 26 g/l) was probably due to a chronic silent bleeding, explaining the surprising good clinical tolerance.…”

“…Association of PDP with juvenile polyposis of the stomach has been reported in only one patient before [10]. Jass et al [11] established a working definition of juvenile polyposis: =5 juvenile polyps of the colorectum and/or juvenile polyps throughout the gastrointestinal tract and/or any number of juvenile polyps with a family history of juvenile polyposis.…”

A Case Of Pachydermoperiostosis And Overriding Forth Toes

“…PDP may be associated with sacroiliitis, psoriasis, rheumatoid arthritis, duodenal ulcers, hypertrophic gastritis [ 4 ], gynecomastia [ 3 ], anemia, myelofibrosis [ 5 ], juvenile polyps, gastric cancer [ 6 ], spondylolisthesis [ 7 ], and cutaneous squamous carcinomas [ 8 ]. In all these cases the associated diagnosis are after the PDP diagnosis so they are not in group of HOA secondary to the other diseases.…”

Primary hypertrophic osteoarthropathy

“…Case report of association of PDP with juvenile polyps of stomach and gastric adenocarcinoma was reported [23].…”