Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity

TL;DR

This paper presents four cases of Cowden syndrome to show the wide range of skin and systemic symptoms, emphasizing the difficulty in diagnosing the condition.

Contribution

The novelty lies in highlighting the diverse clinical presentations of Cowden syndrome through individual patient case reports.

Findings

Cowden syndrome cases showed varied symptom severity and clinical presentations.

Skin findings often precede more serious cancers, complicating early diagnosis.

The case series illustrates the challenges in diagnosing Cowden syndrome due to its diversity.

Abstract

Cowden syndrome (CS) is an autosomal dominant genetic disorder characterized by multiple hamartomas across various tissues and an elevated risk of several types of cancer, including breast, thyroid, and endometrial cancers. Skin findings can precede more serious malignancies, making early detection and diagnosis crucial. In this report, we detail four individual patient histories, including their initial dermatological symptoms or concerns. Due to the wide variety of their clinical presentations, this report highlights the variable level of symptom severity in the presentation of CS and how this may lead to a challenging diagnosis.

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