Typical cutaneous lesions are almost always present and involve the oral mucosa, face, acral areas, palms, and soles. In addition to malignancies of internal organs, benign lesions are frequent, including gastrointestinal (GI) and genitourinary tract polyps and cysts, thyroid adenomas, and hamartomas of the bones, central nervous system (CNS), eyes, and skin.
Most women have severe fibrocystic breast disease, and 20%-36% will develop breast adenocarcinoma. While breast cancer is more likely in females, males have a higher tendency to thyroid cancer. There is also an increased risk of melanoma.
Clinical findings may begin from birth to the fifth decade.
Q85.8 – Other phakomatoses, not elsewhere classified
58037000 – Cowden's syndrome
Differential Diagnosis & Pitfalls