Neurocutaneous Disorders

  • Martino RuggieriEmail author
  • Andrea D. Praticò
  • Agata Polizzi
Living reference work entry


Neurocutaneous disorders are a heterogeneous group of conditions (mainly) affecting the skin [with pigmentary/vascular abnormalities and/or cutaneous tumors] and the central and peripheral nervous system [with congenital abnormalities and/or tumors]. This striking association has long attracted the attention of physicians. Many such associations have been recognized; many are relatively rare conditions but, collectively, they account for a significant proportion of the neurological disorders especially in children. Their clinical manifestations are polymorphous, they may involve many other organs or systems in addition to skin and nervous system (e.g., eyes, heart, lungs, kidneys, blood vessels, and bones), and they may be difficult to diagnose.

In the past few decades and more recently, the molecular genetic and cellular bases of an increasing number of neurocutaneous disorders have been unravelled, shedding light on the interplays between common intra- and extra-neuronal signalling pathways encompassing receptor-protein and protein-to-protein cascades (e.g., RAS, MAPK, mTOR, PI3K/AKT and GNAQ pathways), which are responsible of the phenotypic appearance and distribution of cutaneous and extra-cutaneous features. In view of these recent acquisitions, this group of conditions has expanded tremendously, especially as a result of the recent additional development in neuroimaging and genomic taxonomy and it is now difficult to find an overall synthetic view of the complexities of this spectrum of disorders.

This chapter will focus on the early history of neurocutaneous disorders and on the pioneers whose eponyms stand behind each of these syndromes; on the classification of the well known, and less defined phenotypes and their related molecular/genetic bases, including the mosaic phenotypes.


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Copyright information

© Springer International Publishing AG 2018

Authors and Affiliations

  • Martino Ruggieri
    • 1
    Email author
  • Andrea D. Praticò
    • 1
  • Agata Polizzi
    • 2
    • 3
  1. 1.Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child NeuropsychiatryUniversity of CataniaCataniaItaly
  2. 2.National Centre for Rare Diseases, Istituto Superiore di SanitàRomeItaly
  3. 3.Institute of Neurological Sciences, National Research CouncilCataniaItaly

Section editors and affiliations

  • Concezio Di Rocco
    • 1
  • Gianpiero Tamburrini
    • 2
  1. 1.International Neuroscience InstituteHannoverGermany
  2. 2.Pediatric NeurosurgeryFondazione Policlinico Universitario A. Gemelli, Catholic University Medical SchoolRomeItaly

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