Cowden syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
The hallmark of cowden syndrome is Trichilemmomas. A positive history of PTEN gene mutation is suggestive of cowden syndrome. The most common symptoms of cowden syndrome includetrichilemmomas, oral papillomas and acral keratoses is suggestive of cowden syndrome.
History and Symptoms
- The hallmark of cowden syndrome is trichilemmomas.
History
Patients with cowden syndrome may have a positive history of:
Common Symptoms
Common symptoms of cowden syndrome include:
- Trichilemmomas
- Oral fibromas
- Acral keratoses
- Hamartomas
- Macrocephaly
- Autism spectrum disorder
- Intellectual disability
- Vascular abnormalities
- Genital lesions
Less Common Symptoms
Less common symptoms of cowden syndrome include: