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. 2017 May 17;25(9):1087–1091. doi: 10.1038/ejhg.2017.81

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%

Abbreviations: NA, not applicable; +, present; ─, absent.

a

Pilarski et al.6

b

Tan et al.5