The main clinical features include:
• Macrocephaly
• Developmental delay
• Typical neurodevelopment or intellectual disability of variable degree
• Autism spectrum disorder
• Seizures in some patients
Mucocutaneous findings may include facial papules, oral papillomas, acral keratoses, and skin lesions. Additional features may include gastrointestinal hamartomas, vascular anomalies, lipomas, penile freckling in males, and thyroid enlargement or nodules.
The main concern in children is neurodevelopment, while, in adults, the increased lifetime risk of tumors is predominant, especially breast cancer, thyroid cancer, endometrial cancer, renal cell carcinoma, and colorectal cancer.
PTEN