Cowden syndrome - Report of two cases

Area of Science:

• Dermatology
• Oncology
• Genetics

Background:

• Cowden syndrome is a rare genetic disorder associated with an increased risk of developing various cancers.
• Key features include mucocutaneous lesions and a predisposition to breast, thyroid, and endometrial cancers.

Purpose of the Study:

• To present two cases of Cowden syndrome with typical clinical features.
• To emphasize the diverse spectrum of associated pathologies, including rare findings.

Main Methods:

• Case report presentation.
• Clinical examination and diagnostic workup for Cowden syndrome and associated conditions.

Main Results:

• Both patients exhibited typical mucocutaneous manifestations: facial trichilemmomas, oral fibromas, acrokeratosis verruciformis, and palmar/plantar hyperkeratosis.
• The first patient had follicular thyroid carcinoma, fibrocystic breast disease, and an ovarian teratoma.
• The second patient presented with a rare cerebellar hamartoma, also known as Lhermitte-Duclos syndrome.

Conclusions:

• Cowden syndrome requires comprehensive evaluation due to its wide-ranging clinical manifestations.
• The occurrence of cerebellar hamartoma in Cowden syndrome, though rare, underscores the importance of thorough neurological assessment.