Carpet-like esophageal glycogenic acanthosis as a marker of Cowden syndrome: A Case Report

We present the case of a 38-year-old woman diagnosed with Cowden syndrome who underwent a screening gastroscopy, revealing an esophagus with a mucosa with whitish 1-2 mm islets throughout its length, arranged in a “carpet-like” pattern [Figure 1]. Inspection with NBI showed an epithelial mucosal pattern, suggestive of glycogenic acanthosis [Figure 2]. Given the atypical appearance, biopsies were taken, revealing squamous cells with intracytoplasmic glycogen, confirming the diagnosis. [Figure 3] [1] [2] [3].

Cowden syndrome is an autosomal dominant hereditary disease characterized by a mutation in the PTEN gene, which increases the risk of developing hamartomas throughout the body, with the gastrointestinal tract being one of the most frequently affected areas. It also predisposes individuals to colorectal, small intestine, and pancreatic cancers, among others. Although hamartomas are the most typical finding, other endoscopic findings have also been reported, such as diffuse esophageal glycogenic acanthosis. Glycogenic acanthosis is a common and benign lesion, characterized by patches of hyperplastic mucosa with glycogen deposits. However, diffuse esophageal glycogenic acanthosis with a carpet-like appearance has only been described in Cowden syndrome (present in up to 80% of cases) and is currently considered a minor diagnostic criterion. Few images of this finding have been reported, which is why we present this case. Therefore, when encountering a carpet-like esophageal glycogenic acanthosis, along with a personal or family history of gastrointestinal cancer, it is advisable to rule out the presence of gastrointestinal hamartomas.

Publication History

Article published online:
27 March 2025

• References

• 1 Pilarski R, Burt R, Kohlman W. et al. Cowden syndrome and the PTEN hamartoma syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst 2013; 105: 1607-1616
• 2 Dragoo DD, Taher A, Wong VK, Elsaiey A, Consul N, Mahmoud HS. et al. PTEN Hamartoma Tumor Syndrome/Cowden Syndrome: Genomics, Oncogenesis, and Imaging Review for Associated Lesions and Malignancy. Cancers 2021; 13 (13): 3120
• 3 Coriat R, Mozer M, Caux E, Chryssostalis A, Terris B, Grandjouan S. et al. Endoscopic findings in Cowden syndrome. Endoscopy 2011; 43: 723-6