Cowden Syndrome: A Case Series Highlighting Cutaneous and Systemic Diversity

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...

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Bibliographic Details
Published in:Curēus (Palo Alto, CA) Vol. 16; no. 8; p. e67241
Main Authors: Rossi, Marcus S, Sejo, Jessica P, Kirchner, Allison, Tsoukas, Maria
Format: Journal Article
Language:English
Published: United States Cureus Inc 19-08-2024
Cureus
Subjects:
Cancer therapies
Chromosomes
Dermatology
Endometrial cancer
Family medical history
Genetic testing
Genetics
Hyperplasia
Mutation
Oncology
Patients
Phosphatase
Thyroid gland
Thyroidectomy
Tumors
skin neoplasm
cowden syndrome
phosphatase and tensin homolog
pten mutation
genodermatoses
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Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
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ObjectType-Report-1
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ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.67241