Molecular and Genetic Studies in Neurocutaneous Syndromes

Dear Colleagues, 

Neurocutaneous syndromes are a heterogeneous group of rare genetic disorders affecting primarily the skin, the central and peripheral nervous systems and the eye. Clinical manifestations in other organs such as the heart, vessels, lungs, kidneys, endocrine glands and bones may also be present. Moreover, there is an increased risk of tumour formation in many of these syndromes. Most common forms of these syndromes are neurofibromatosis and tuberous sclerosis, which are also known as hamartoma syndromes. Due to intensive research, genes involved in the pathogenesis of these syndromes have been annotated and their functions have been partially discovered; however, the underlying reasons for the neoplastic formations are not yet fully understood. Moreover, strong phenotypic variability can be observed even within families carrying the same germline mutation, suggesting the involvement of modifier genes or epigenetic factors in the disease pathogenesis. The diversity of disease manifestations is apparent; however, they share one common feature, namely, the dysregulation of the mTORC1 signalling pathway. Therefore, targeting the mTOR pathway supposed to be a promising therapy approach in the treatment of these syndromes. The genetic heterogeneity of these syndromes makes diagnosis challenging. The disease-causing genetic variations could range from small-scale mutations to various large structural variations, including copy-number variations. A certain number of mutations are of de novo origin, and somatic mosaicism further nuances the clinical picture.  

The aim of this Special Issue is to collect original and review articles reporting recent findings related to the genetic defects and pathomechanisms underlying neurocutaneous syndromes, particularly hamartoma syndromes (neurofibromatosis and tuberous sclerosis). Molecular studies with promising therapeutic approaches are also welcome. 

Dr. Judit Bene
Guest Editor

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