Neurofibromatosis, Tuberous Sclerosis, and other genetic syndromes – prevalence, risk factors for sporadic occurrence, comorbidities, and mortality

The phacomatoses are autosomal dominant disorders; however, a large proportion of patients are de novo with no previous family history of the disease. The most common phacomatosis is neurofibromatosis type 1 with an estimated prevalence at birth of 1/3000.

We have unique possibilities to contribute important well-designed epidemiological studies on phacomatoses through the Swedish health data registers, which allows us to identify the outcomes, link children, parents and siblings, obtain information on perinatal factors, including also parental occupations, prescribed drugs, morbidity and mortality. Importantly, we will be able to distinguish between sporadic (de novo) and inherited cases, and the long history of the Swedish population-based health data registers allows us to identify the hitherto largest cohort of phacomatoses.

This research program on phacomatoses consists of three different parts; one focused on the association between phacomatoses and perinatal factors and whether phacomatoses could explain the previously observed association between perinatal factors and childhood cancer risk, a second part focused on the prevalence at birth of phacomatoses and studies regarding comorbidities and excess mortality among individuals affected by these genetic syndromes, and a third part will investigate potential risk factors for de novo phacomatoses, such as parental age and parental occupational exposures.