Table 1. Phenotypic features of the patients 1998101 and 2001012.
Patient 1998101 | Patient 2001012 | |
---|---|---|
Age at description | 43 years | 62 years |
Gender | Male | Female |
Geographical origin | West Indies | Maghreb |
Family history | ? | + |
Mucocutaneous lesions | + | + |
Oral papillomatosis | + | + |
Acral keratosis | + | + |
Trichilemmomas | + | ─ |
Genital pigmentation | + | ─ |
Thyroid lesions | + | + |
Benign | + | + |
Multinodular goiter | ─ | + |
Adenomas | + | ─ |
Malignant | ─ | ─ |
Breast lesions | NA | + |
Benign | NA | + |
Malignant | NA | ─ |
Digestive lesions | + | + |
Colonic polyps | + | + |
Hamartomas | + | + |
Adenomas | ─ | + |
Ganglioneuromas | ─ | ─ |
Lipomas | ─ | ─ |
Gastric polyps | + | + |
Glycogenic acanthosis | + | + |
Lipovascular lesions | + | + |
Lipomatosis | + | + |
Vascular lesions | + | + |
Brain lesions | + | + |
Macrocephaly | + | + |
Lhermitte–Duclos | ─ | + |
Mental retardation/autism | ─ | ─ |
Epilepsy | ─ | ─ |
Genitourinary lesions | + | + |
Male | + | NA |
Female | NA | + |
Ovarian cyst | NA | ─ |
Uterine fibromas | NA | + |
PTEN-Predict Scorea | 93.3% | 85% |
PTEN Cleveland Clinic Scoreb | 99% | 99% |