A 31-year-old woman with 2-year progressive papules and 6-year multiple tumors had facial, palmar, plantar papules and mucosal cobblestone-like lesions, with trichilemmoma confirmed histopathologically. Genetic testing detected a heterozygous PTEN p.Arg233Ter variant, leading to the diagnosis of Cowden syndrome—a rare multisystem disorder associated with malignancy risk and benign hamartomatous overgrowths.
Tan et al. (Fri,) studied this question.