Table 1.
Pathognomonic Criteria |
---|
Adult Lhermitte-Duclos disease (cerebellar tumors) |
Mucocutaneous lesionsa |
- Facial trichilemmomas, any numbera (at least two biopsy-proven trichilemmomasb) |
- Acral keratoses |
- Papillomatous papules |
Mucosal lesions |
Autism spectrum disorder and macrocephalyb |
Major Criteria |
Breast cancer |
Thyroid cancer (nonmedullary) |
Macrocephaly (megalocephaly) (i.e., 97th percentile and above) |
Endometrial cancer |
Mucocutaneous lesionsb |
- One biopsy-proven trichilemmoma |
- Multiple palmoplantar keratoses |
- Multifocal cutaneous facial papules |
- Macular pigmentation of glans penis |
Multiple GI hamartomas or ganglioneuromasb |
Minor Criteria |
Other thyroid lesions (e.g., adenoma, multinodular goiter) |
Mental retardation (i.e., IQ of 75 and below) |
Gastrointestinal hamartomasa (single gastrointestinal hamartoma or ganglioneuromab) |
Fibrocystic disease of the breast |
Lipomas |
Fibromas |
Genitourinary tumors (especially renal cell carcinoma) |
Genitourinary malformationsa |
Uterine fibroids |
Autism spectrum disorderb |
Present in this section as defined by ICC criteria only.
Present in this section as defined by NCCN 2010 criteria only.