What question did this study set out to answer?

To illustrate the clinical features and genetic basis of Cowden syndrome in a patient.

February 5, 2026British Journal of Dermatology0 citations

Cowden Syndrome

YTYi-Ling TanShenzhen Chronic Disease Prevention Center GYGuan YangShenzhen Chronic Disease Prevention Center

Key Points

To illustrate the clinical features and genetic basis of Cowden syndrome in a patient.
Case report of a 31-year-old woman
Description of clinical symptoms including papules and tumors
Histopathological confirmation of trichilemmoma
Genetic testing for PTEN variant
Patient exhibited progressive papules and multiple tumors
Histological analysis confirmed the presence of trichilemmoma
Genetic testing revealed a heterozygous PTEN mutation leading to diagnosis

Abstract

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.

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