Neurocutaneous Syndromes Clinic

Neurocutaneous Syndromes Clinic

Neurocutaneous syndromes (phakomatoses) are a group of hereditary diseases in which there is a complex lesion of the nervous system, skin integuments and internal organs, caused by a violation of the formation and development of ectoderm. Most of these diseases are genetic, and the main aspects of clinical syndromes are based on the generality of embryonic development of the skin and nervous systems from the neuroectodermal layer of the embryo.

Our clinic employs highly qualified specialists who have all the necessary knowledge and skills. Our department is equipped with modern equipment, which makes it possible to use unique methods of therapy. Our employees undergo special training annually at foreign research centers. We try to surround each patient with round-the-clock care and supervision.

The diseases that we treat

Our qualified specialists will help you cope with the following pathologies: 

  • type I neurofibromatosis (Recklinghausen's disease);
  • type II neurofibromatosis (bilateral auditory neuroma);
  • tuberous sclerosis (Bourneville-Pringle disease);
  • Sturge-Weber syndrome (encephalotrigeminal angiomatosis);
  • Klippel-Trenone-Weber syndrome (hypertrophic hemangiectasia);
  • ataxia-telangiectasia (Louis-Bar syndrome);
  • Hippel-Lindau disease (retinocerebrovisceral angiomatosis);
  • Osler-Weber-Randu disease (hereditary hemorrhagic telangiectasia);
  • hypomelanosis Ito;
  • pigment incontinence (Bloch-Sulzberger syndrome);
  • albinism.

Experts believe that the cause of the disease is a genetically determined defect in embryonic development. The nervous system and skin are formed from the same layer of germ cells. Some internal organs are also partially formed from this layer. Therefore, the only genetic defect manifests itself in the simultaneous defeat of completely different structures. Common to all phakomatoses are tumor growths in the form of fibroids, angiomas, telangiectasias, as well as skin pigmentation disorders. At the same time, each species has its specific symptoms.

Diagnosis and treatment of the disease

Magnetic resonance imaging (MRI) is used to detect angiomas in the tissues covering the brain. If magnetic resonance imaging (MRI) is not possible, it can be replaced with computed tomography (CT) in older children and adults. A neurologic examination is done to look for signs of weakness, poor coordination, and/or paralysis. An eye exam is performed to detect.

Treatment is aimed at relieving symptoms. Anticonvulsants are used to control seizures and drugs are used to treat glaucoma. Surgery for glaucoma or surgery may be needed to stop seizures that recur despite medication.