Epidemiology

PJS is rare. The reported incidence is 1 in 50,000 to 1 in 200,000 live births.[2][3] This syndrome is caused by germline alterations in STK11 (LKB1) gene. In 50% of individuals, the disease is inherited in an autosomal-dominant manner; 50% of cases arise due to a de novo mutation. Males and females are equally affected. There is no known racial or ethnic predilection. Although a variety of mutations of STK11 may occur, there does not appear to be regional variation in the types of mutations found, or convincing evidence to support varying genotype-phenotype correlations.[4][5]

BMJ Best Practice is an evidence-based point of care tool for healthcare practitioners.

To continue reading and access all of BMJ Best Practice's pages you'll need to log in or start a free trial.

You can access through your institution if your hospital, university, trust or other institution provides access to BMJ Best Practice through either OpenAthens or Shibboleth.

Use of this content is subject to our disclaimer