A recent JAMA Dermatology case study illustrates how a woman diagnosed in her 60s with a significant cancer history finally identified her problem—cobblestone tongue—linked to Cowden syndrome. This rare genetic disorder, resulting from PTEN gene mutations, leads to both benign tumors and an increased risk of various cancers, including breast and thyroid tumors. Early detection and regular cancer screenings are crucial for individuals with Cowden syndrome due to their heightened vulnerability to malignant growths throughout their lives.
Cowden syndrome is a rare genetic condition characterized by mutations in the PTEN gene, leading to increased risk of various cancers and noncancerous tumors.
In Cowden syndrome, individuals face an elevated risk of developing certain cancers, particularly breast, thyroid, and uterine cancers, necessitating regular screenings.
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