Do you know this syndrome?

Abstract

Cowden's disease or multiple hamartoma syndrome is an autosomal dominant inherited disease and the main dermatological features are facial trichilemmomas (hamartomas of the follicular infundibula), oral fibroma and benign acral keratoses. The importance of this disease lays in the increased susceptibility to malignization of some lesions, especially breast, thyroid and genitourinary tract. Despite its varied phenotypic expression, this disease is generally unknown. Consequently, many cases are undiagnosed or diagnosis comes at a late stage, which reinforces the importance of an early investigation of the disease so the patient may have periodic check-ups to discover and treat malignancies.

Genetic basis of Cowden syndrome and its implications for clinical practice and risk management

“…While particular mucocutaneous lesions are rare in the general population, certain dermatologic findings, including multiple trichilemmomas, oral papilloma, and acral keratosis, are often the initial indicator for dermatologists to seek out a high-risk genetics evaluation of CS for their patients. 44 These lesions are identified in many patients with a germline PTEN mutation, although early prevalence estimates may be inflated due to the original focus on dermatologic manifestations in the diagnostic work-up for CS. 45 …”