Abstract
Background and aimPhacomatoses are genetic syndromes often associated with an increased risk of a variety of malignant and benign neoplasms, including nervous system tumors. Little is known about the causes of de novo occurrences of phacomatoses. Therefore, the aim of this study was to assess the association between maternal smoking during pregnancy and the occurrence of de novo phacomatoses.MethodsAll individuals born in Sweden between 1982 and 2014 with information on both biological parents were identified through the Medical Birth Register (MBR), n=3,132,056. The Swedish population-based health care registers were used to identify individuals with a phacomatosis and information on maternal smoking was extracted from the MBR. Logistic regression models were used to evaluate the effect of maternal smoking during pregnancy on the risk of phacomatoses.ResultsIn the study population, we identified 2074 individuals diagnosed with a phacomatosis, among which 75% were regarded as de novo occurrence. While no effect of heavy maternal smoking (10+ cigarettes/day) was observed for de novo neurofibromatosis, an increased risk was found for other phacomatoses excluding neurofibromatosis (OR =1.51, 95% CI 1.13–2.03). Indications of an increased risk for specific phacomatosis subtypes were observed for tuberous sclerosis (OR =1.39, 95% CI 0.91–2.14) and Sturge–Weber syndrome (OR =1.86, 95% CI 0.83–4.19). No association was observed for familial phacomatoses.ConclusionThis is the first study examining the risk of de novo phacomatoses associated with heavy maternal smoking during pregnancy. Further studies are needed to confirm the associations observed and elucidate potential biological mechanisms.
Highlights
Phacomatoses are genetic, neurocutaneous syndromes, manifesting at different ages with central nervous system and cutaneous abnormalities.[1]
Heavy maternal smoking during pregnancy was associated with an increased risk of phacomatoses in offspring for the group “phacomatoses excluding neurofibromatosis” which includes many phacomatosis subtypes, such as tuberous sclerosis, Sturge–Weber syndrome, and von Hippel–Lindau syndrome
Our study indicates that maternal smoking during pregnancy might cause an increased risk of having offspring with de novo syndromes caused by errors that occurred during maternal meiosis II or later in the mosaic state during embryonic development
Summary
Phacomatoses are genetic, neurocutaneous syndromes, manifesting at different ages with central nervous system and cutaneous abnormalities.[1] these syndromes are associated with an increased cancer risk and most are characterized by multiple hamartomas of the central and peripheral nervous system, eye, skin, and viscera.[2,3] Several phacomatoses are known to be associated with the occurrence of nervous system tumors.[4,5] The etiology behind phacomatoses is very heterogeneous and the different disorders are caused by a large number of genetic mechanisms, including mosaicism, point mutations, and single gene disorders with different inheritance patterns.
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