Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity

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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Publication Details

Journal
Cureus
Published
2024-08-19
DOI
https://doi.org/10.7759/cureus.67241
Primary Topic
PI3K/AKT/mTOR signaling in cancer
Type
article
Field-Weighted Citation Impact
0.00
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article

Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity

Maria Tsoukas, Jessica P Sejo, Marcus S Rossi, Allison Kirchner
Cureus
PI3K/AKT/mTOR signaling in cancer
article

Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity

Maria Tsoukas, Jessica P Sejo, Marcus S Rossi, Allison Kirchner
article en

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.

CureusVol. 16(8)
Illinois College (US), University of Illinois Chicago (US), University of Chicago (US)
Good health and well-being
Openalex Percentile: Top 87%
PI3K/AKT/mTOR signaling in cancer
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Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity — Maria Tsoukas, Jessica P Sejo, et al. · Cureus (2024) | TGRS Research Map | TGRS