The cause of these conditions is abnormal cell differentiation in the early stages of embryonic development. We include several conditions described below.

Neurofibromatosis

There are two types. The first type, Recklinghausen's disease, is characterised by multiple nodules on the skin and peripheral nerves; these are called neurofibromas and occur on the trunk, limbs, face, tongue, larynx and also in internal organs.

These nodules can also protrude into the spinal canal and cause root syndromes due to compression of the spinal cord, and peripheral nerves can be similarly affected.

The second symptom is "milky coffee" type skin patches (so-called caffe au lait) and the third is Lisch nodules - these are whitish spots on the iris. In some patients, optic nerve gliomas are also found. In terms of clinical symptoms - epileptic seizures, neuralgia and the spinal cord compression symptoms described earlier may be present. There are two peaks in the manifestation of the disease - early childhood or middle age.

In type two of this disease, there are bilateral sural neuromas, skin patches and opacification of the lens.
As far as treatment is concerned, it is symptomatic. Mainly surgical methods are used where possible, sometimes radiotherapy or chemotherapy. Most important, however, is the support of a psychiatrist and psychologist for the family.

Cerebro-facial hemangioma, or Sturge-Weber syndrome, is another syndrome where facial and cerebral hemangiomas (so-called "wine stains") are characteristic in the clinical picture. They manifest themselves as epilepsy, glaucoma or, by compressing the relevant brain structures, can even cause hemiparesis. Mental retardation is found in some patients.

Tuberous sclerosis or Bourneville-Pringle disease - symptoms appear as the child matures. Discoloured patches of skin are the first to become apparent. This is followed by areas of so-called chagrinous skin, i.e. raised, bumpy areas of skin and fibromatosis-type lesions - usually between 4 and 12 years of age. Periungual fibromas may also appear at this stage.

Adding to the overall picture are brain lesions - nodules of the hamartoma type (made up of mature tissues normally found in the organ in question, but chaotically distributed in the tumour, often in an abnormal quantitative proportion), which calcify after about 4 years of age and are easily detected on imaging studies -CT or MR.

These lesions cause the symptoms of tuberous sclerosis, mainly epilepsy. These children also have intellectual disabilities, in many cases with features of autistic disorders.

Nodular lesions of the brain can undergo transformation into a neoplasm of a stellate nature.

In addition to brain lesions, tumours can also appear in internal organs , most commonly in the heart with rhabdomyosarcoma, as angiomyolipomas in the liver and lungs, and in the kidneys as polycystic degeneration.

Treatment mainly comes down to epilepsy management; psychosocial support is also important.

Retinal and cerebellar hemangioma, or Hippel-Lindau syndrome, involves retinal and cerebellar hemangiomas.
Klipell, Trenaunay, Parker and Weber syndrome is associated with hypertrophy of one limb or hypertrophy of the whole half of the body. This hypertrophy involves soft tissues, but also bones and vessels. In addition, pigmented moles of the skin and hemangiomas may appear.

Ataxia-teleangiectasia or Louis-Bar disease - the predominant symptoms in this syndrome arecerebellar at axia, which is a syndrome characterised by impaired motor coordination of the body, and telangiectasias, which are abnormal vasodilatations of the face, conjunctiva and auricles. In addition, there are immune deficiencies and therefore an increased susceptibility to infection and an increased risk of tumours.

Neurocutaneous melanosis, in which there are giant pigmented moles and numerous small moles with a tendency towards malignancy (with the development of melanoma). The clinical picture is dominated by epilepsy and mental retardation.