Phakomatosis is a collective term for hereditary diseases of the skin and the nervous system, which are characterized by the occurrence of harmatoms in various organ systems. The individual diseases have nothing to do with each other, but are provisionally summarized on the basis of disease characteristics and their causes. Since phakomatoses have a genetic basis, they cannot be treated causally.


What is phakomatosis?

Actually, the term phakomatosis does not have a scientific basis. They are completely different skin and nerve diseases, but share some common characteristics. Common features include the appearance of hematomas, spots on the skin, and their genetic origin. See electronicsencyclopedia for Slang Insulinoma.

Due to this fact, there is no scientifically explicable definition for the collective term phakomatosis. Only externally similar appearances are grouped together. However, this summary of purely superficial similarities does not justify the formation of terms in the scientific sense.

However, the term phakomatosis has established itself in medicine, although it is completely superfluous. In this way, hereditary tumor diseases of the skin and nervous systems were always documented from the outset. However, these are not tumors in the original sense, but tumor-like changes in the tissue.

Excess tissue develops due to faulty processes, in which, however, no autonomous cell division processes take place, which are otherwise common in the actual benign and malignant tumors.

Today, the term phakomatosis includes such diseases as type 1 neurofibromatosis (Recklinghausen syndrome), tuberous sclerosis (Recklinghausen syndrome), retinocerebellar angiomatosis (Hippel-Lindau syndrome), encephalofacial angiomatosis (Sturge-Weber syndrome).), ataxia telangiectatica or Peutz-Jeghers syndrome.


Since phakomatosis is a collective term, there is no uniform cause for these diseases. The only thing that all phakomatoses have in common is that they are hereditary. However, to investigate the causes, the individual diseases must be considered independently of one another.

Type 1 neurofibromatosis, for example, is an autosomal dominant hereditary disease characterized by the occurrence of so-called café-au-lait spots and neurofibromas. It is caused by the mutation of a gene that helps inhibit cell division. If this inhibition is suppressed, a benign tissue proliferation (harmatoma) occurs.

The gene responsible for this is on chromosome 17. Tuberous sclerosis, in turn, is an autosomal dominant disease that is caused either by mutations in a gene on chromosome 9 or in a gene on chromosome 16. In retinocerebellar angiomatosis (Hippel-Landau disease), the tumor-like tissue changes are located on the retina of the eye.

In this disease, the von Hippel-Lindau tumor suppressor gene is altered by mutation. This gene is located on chromosome 3. The mutation is inherited in an autosomal dominant manner. About 50 percent of all mutations are new mutations. The trigger for encephalofacial angiomatosis (Sturge-Weber syndrome) is a so-called somatic mosaic mutation in a gene on chromosome 9.

GTPase activity is reduced with a simultaneous increase in GTP signaling activity. A gene on chromosome 11 is responsible for ataxia telangiectatica (Louis-Bar syndrome). The inheritance is autosomal recessive. This gene is responsible for coding the serine protein kinase ATM. The serine protein kinase ATM detects DNA damage and regulates DNA repair processes.

Symptoms, Ailments & Signs

In the case of encephalofacial angiomatosis (Sturge-Weber syndrome), the trigger is a so-called somatic mosaic mutation in a gene on chromosome 9. GTPase activity is reduced with a simultaneous increase in GTP signaling activity. A gene on chromosome 11 is responsible for ataxia telangiectatica (Louis-Bar syndrome). The inheritance is autosomal recessive.

This gene is responsible for coding the serine protein kinase ATM. The serine protein kinase ATM detects DNA damage and regulates DNA repair processes. Tumor-like tissue changes are sometimes also present in the kidneys, adrenal glands or pancreas. Dangerous bleeding can occur in the area of ​​the brainstem.

Sturge-Weber syndrome (encephalofacial angiomatosis) is also characterized by vascular malformations in the eye and brain. The children are clearly developmentally delayed. Epileptic seizures and migraine -like headaches can occur. Ataxia telangiectatica (Louis-Bar syndrome) shows symptoms such as insecurity when walking and standing.

A physical and psychological developmental delay as well as enlargement of the small arteries in the face and on the conjunctiva of the eye can also occur. The immune system is weakened with a tendency to infections. Peutz-Jeghers syndrome, in turn, is characterized by pigment spots on the mucous membranes and skin and multiple benign polyps (harmatomas) in the gastrointestinal tract.

Diagnosis & course of disease

The diagnosis can often be made by the typical symptoms of the disease. Imaging methods show changes in the brain, for example.


Due to phakomatosis, those affected suffer from many different complaints. In most cases, the disease causes epileptic seizures or very severe headaches. This pain often spreads to other regions of the body and also causes symptoms there. Persistent pain can also lead to irritability or depression in those affected.

Sometimes phakomatosis leads to restricted movement and an unsteady gait. The person affected may no longer be able to move on their own and is therefore dependent on the help of other people in their everyday life. Due to the disease, the immune system is also severely weakened, so that infections and inflammations occur more frequently in those affected. Stomach problems or digestive problems can occur and significantly reduce the quality of life of those affected.

The skin is often impure and affected by pigment spots. There are no special complications in the treatment of phakomatosis. In most cases, the symptoms of this disease can be limited well. The life expectancy of the patient is also not affected by early treatment.

When should you go to the doctor?

If skin changes and disorders of the nervous system occur, phakomatosis may be the underlying cause. A doctor’s visit is advisable if the symptoms quickly become more severe and affect your well-being over time. If other symptoms appear, it is best to consult your family doctor immediately. Seizures and attacks of pain indicate serious phakomatoses such as enephalofacial angiomatosis or ataxia telangiectatica, which require immediate medical attention.

If an accident or fall occurs as a result of a seizure, the emergency services must be called or the person concerned should be taken to the nearest clinic as soon as possible. Due to the different types of phakomatoses and the multitude of possible symptoms that can be associated with them, a medical examination is always necessary. It is best for those affected to consult their general practitioner immediately, who can make the diagnosis based on anamnesis and a biopsy. The treatment is carried out by the dermatologist or a neurologist.

Depending on the nature of the symptoms, other specialists may be consulted. The therapy must be closely monitored by a doctor. This ensures that no complications arise and that skin changes and neurological complaints subside. Individuals suffering from disorders of the skin or nervous system should inform the doctor if signs of neurofibrosis, tuberous sclerosis, or any other phakomatosis appear.

Treatment & Therapy

The treatment of phakomatoses depends on the underlying disease. A cure is not possible for all phakomatoses because they are all genetic. In neurofibromatosis, the newly growing neurofibromas and tumors must be constantly removed. Otherwise, treatment is symptomatic.

In the case of the other phakomatoses, too, symptomatic therapy and removal of tissue changes predominate. In some cases, epilepsy and developmental delays must be treated. In the case of retinocerebellar angiomatosis, the angiomas in the eyes in particular must be removed using various methods in order to be able to preserve vision for a long time. Laser coagulation, cryotherapy, radioactive irradiation (brachytherapy), transpupillary thermotherapy, photodynamic therapy and other treatment methods are suitable for this.

Outlook & Forecast

The further course of a phakomatosis cannot generally be predicted. For this reason, with this disease, a quick and, above all, very early diagnosis is first and foremost necessary so that further complications or symptoms do not occur. Self-healing is also not possible, so that the person affected with this disease is always dependent on a visit to a doctor. Likewise, in the case of phakomatosis, the underlying disease must be cured in the first place so that the symptoms are completely limited.

If the phakomatosis is not treated at all, the symptoms usually continue to spread and significantly reduce the patient’s quality of life. In some cases, the life expectancy of those affected can also be reduced if the disease is detected late. A complete cure is often not possible when the phakomatosis has a genetic origin. If you want to have children, a genetic test and counseling should be carried out to prevent the disease from recurring. Tumors can also be removed, but they can also recur after removal. For this reason, this disease often reduces the life expectancy of those affected.


It is not possible to prevent phakomatoses because they are all hereditary. If cases of phakomatosis have occurred in the family or relatives, human genetic counseling is often helpful in order to assess the risk of passing it on to the offspring.


In most cases, those affected by phakomatosis have only very few or even very limited direct follow-up measures available. The person affected by this disease should consult a doctor very early on and initiate treatment so that there are no further complications or other symptoms. A doctor should therefore be consulted at the first sign of the disease.

In some cases, the disease cannot be completely cured if it has a genetic origin. Those affected should have a genetic examination and counseling carried out if they want to have children again. The disease itself can be treated by using various creams or ointments.

Affected people should always pay attention to the correct dosage and regular use in order to relieve the symptoms properly and permanently. It is not uncommon for those affected to depend on psychological support. Loving and intensive conversations with one’s own family in particular have a very positive effect on the further course of the disease. As a rule, phakomatosis itself does not reduce the patient’s life expectancy.

You can do that yourself

Depending on the type and severity of the phakomatosis, those affected can take various measures to support the treatment. The first step is to determine the cause of the skin and nerve disease and to eliminate the trigger.

General measures such as a change in lifestyle or a change of job can lead to improvement, but should first be discussed with a doctor. The same applies to the use of various home and natural remedies. Some phakomatoses can be alleviated with witch hazel, St. John’s wort and other preparations that have a positive effect on the skin’s appearance and well-being. Nerve problems can be alleviated by physiotherapy and physical activity in addition to drug therapy. If scars have already formed as a result of skin problems, there are often mental problems that need to be treated.

The doctor can also establish contact with other sufferers and refer the patient to a self-help group, for example. A holistic treatment of the symptoms is necessary to enable the patient to live a relatively symptom-free life. Due to the variety of possible phakomatoses, a specialist must always be consulted before self-help measures are initiated.