Patient | S/F | Pigmentation | PJS polyps | Cancer | Notes |
---|---|---|---|---|---|
2 | S | Classical | Multiple | No | |
3 | S | Classical | 10 | No | |
4 | F | Classical | Multiple | Ca endometrium (mother), 35 y | |
5 | F | Classical | 5 | No | |
6 | S | Classical | Multiple | Not known | |
8 | F | Classical | Multiple | Not known | |
11 | F | Classical | 3 | Ca ovary (aunt), 19 y | Other family members have larger numbers of polyps |
12 | F | Classical | Multiple | No | One affected family member has no pigment to age 33 |
16 | F | Classical | Multiple | Not known | |
20 | F | Classical | Multiple | No | |
21 | F | Classical | Multiple | No | |
22 | F | Classical | Multiple | No |
S/F = sporadic/familial. Pigmentation refers only to circumoral and buccal mucosa. “Classical” is used to describe multiple lentigines of the lips and buccal mucosa. In familial cases, the clinical features of the proband are presented as regards polyps and pigmentation. Usually, the number of polyps could not be determined with precision from medical records, hence the use of the term “multiple” to describe cases in whom there was good evidence from patient histories, referring clinicians, and medical records that more than one PJS polyp had been found, but in whom the total number of polyps was uncertain; in cases with a reported number of polyps, the data probably underestimate the total number of polyps, owing to polyps left in situ or not visualised, or not recorded in notes, or not kept in archives. “Cancer” describes malignant tumours in any family member with PJS. Any noteworthy clinical features of family members other than the proband are given in “Notes” if they differ from those of the proband.