Cowden syndrome
Abstract
A 31-year-old woman with 2-year progressive papules and 6-year multiple tumours had facial, palmar and plantar papules as well as 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.
Fields of Study & Subjects
Genetic and rare skin diseases.
Cancer and Skin Lesions
Tuberous Sclerosis Complex Research
Publication details
- Journal / source
- British Journal of Dermatology
- Volume
- 194
- Issue
- 5
- Pages
- 998–998
- Publication date
- 30 January 2026
- Language
- EN