Peutz-Jeghers Syndrome Population Demographics
Peutz-Jeghers syndrome affects all racial groups equally, with no sex predilection, occurring in both males and females at equal rates. 1
Epidemiology and Incidence
- PJS is a rare autosomal dominant disorder with an estimated incidence ranging from 1 in 50,000 to 1 in 200,000 live births. 1
- The syndrome appears equally distributed across all racial and ethnic populations, with no particular racial group being predominantly affected. 1
- Both males and females are affected equally by this condition. 1
Age of Clinical Presentation
- Polyps begin growing during the first decade of life, with most patients becoming symptomatic between ages 10-30 years. 1
- The average age at diagnosis is 23 years in men and 26 years in women. 1
- Mucocutaneous pigmentation typically appears in infancy and may fade in late adolescence. 1
Inheritance Pattern and Family History
- PJS follows an autosomal dominant inheritance pattern with incomplete penetrance and variable expression. 1
- Approximately 70% of affected individuals have a family history of the condition, while 30-70% represent sporadic cases due to de novo mutations. 1
- The rate of spontaneous mutation in this disorder remains unknown. 1
Clinical Pitfalls
- Do not assume PJS only affects certain ethnic groups - this is a common misconception, as the syndrome occurs across all racial populations. 1
- The absence of family history does not exclude PJS, as a significant proportion (30-70%) of cases are sporadic. 1
- While pigmentation typically appears in infancy, some patients (13%) are diagnosed based on pigmentation alone without prior gastrointestinal symptoms. 1