New Insights into Neurocutaneous Syndromes in Children and in the Transitional Age

Dear Colleagues,

As most of you already know, neurocutaneous syndromes are a heterogeneous group of diseases (mainly) affecting the skin, the nervous system and the eye. These conditions, however, may also affect many other organs or systems including the heart, vessels, lungs, kidneys and bones, thus configuring complex (malformation) syndromes. In the past few decades, the molecular genetic and cellular bases of an increasing number of neurocutaneous syndromes have been unravelled, shedding light on the interplays between intra- and extra-neuronal signalling pathways encompassing receptor-to-protein and protein-to-protein cascades involving the RAS, MAPK/MEK, ERK, mTOR, RHOA, PI3K/AKT, PTEN, GNAQ and GNA11 pathways, which also explain the phenotypic variability and overlapping. Newer imaging techniques helped clinicians to better diagnose and manage affected individuals. The general panorama of neurocutaneous syndromes is rapidly changing; new conditions are increasingly recognised and the respective frequencies of the various types have changed with recent studies. Currently, however, there is no universal agreement on the definition of some of these disorders and on their natural history; controversies emerge on diagnostic, follow-up and management protocols and, as new biologically targeted therapies are increasingly translated to these syndromes, practical problems have grown. With this Special Issue, we hope to encourage submissions that discuss the current state-of-the-art, address ongoing knowledge gaps and focus on ongoing controversies in neurocutaneous syndromes in the pediatric age and in the crucial age, which is the age of transition.

Prof. Dr. Martino Ruggieri
Guest Editor

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Journal of Clinical Medicine is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

• neurofibromatosis
• tuberous sclerosis complex
• Sturge–Weber syndrome
• mosaic neurocutaneous syndromes
• rare neurocutaneous syndromes
• molecular genetics
• imaging
• treatment