Neurocutaneous Syndrome


The neurocutaneous syndrome is a group of various hereditary diseases that manifest themselves both on the skin and in the central nervous system.


The diseases that comprise the neurocutaneous syndrome are characterized by certain malformations of the germ layers that arise in the embryonic period. This means that these malformations occur in the development of the unborn child. The human organism is made up of 3 cotyledons - an outer, a middle and an inner one.

In neurocutaneous syndrome, there are malformations in the neuroectodermal and mesenchymal germ layers. The neuroectodermal germ layer is a part of the outer germ layer from which the nervous system develops in the embryonic development. The "embryonic connective tissue" emerges from the mesenchymal germ layer, from which the connective, cartilage, muscle and fat tissue, as well as bones, tendons and blood arise.

The neurocutaneous syndrome results in various diseases that are classified differently. The classic neurocutaneous syndromes include neurofibromatosis, Sturge-Weber-Krabbe syndrome, Von-Hippel-Lindau-Czermak syndrome and Bourneville-Pringle syndrome.

Further information on neurofibromatosis can be found here: Neurofibromatosis 1, Neurofibromatosis 2

Causes of the Neurocutaneous Syndrome

In the neurocutaneous syndrome, there are changes in the genes that can trigger various malformations in the embryonic period.

The neuroectodermal malformations explain the neurological disorders.

Tumors can develop from the mesenchymal malformations. These can be both good and bad.

The cause of this genetic change has not yet been fully clarified.

Diagnosis of neurocutaneous syndrome

The diagnosis depends on the respective syndrome and cannot be generalized. As a rule, various imaging methods are among the examination methods. The course of the disease can also look different and requires regular medical checks. Depending on the clinical picture, different medical check-ups are required.

Concomitant symptoms

Since the neurocutaneous syndrome encompasses a large number of very different diseases, the symptoms and accompanying complaints are manifold. They can show up in different ways as skin disorders and neurological disorders. Depending on which areas of the brain are affected, various failures can occur.

How is it treated?

Treatment depends on the disease. A distinction is made here between symptomatic treatment and treatment that aims to suppress and slow down the severity of the symptoms.

Since the cause of the genetic change is unknown, the cause cannot be treated on your own.


Due to the large number of diseases and their different forms, no uniform prognosis can be made. The characteristics of the individual diseases also vary greatly, so that no general prognoses can be made. However, due to medical advances, the prognoses have improved overall.