Phacomatosis

The Phacomatosis 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 based on disease characteristics and their causes. Since phacomatoses have a genetic basis, they cannot be treated causally.

What is Phacomatosis?

Prevention of phacomatosis is not possible because they are all hereditary. If there have been cases of phacomatosis in the family or relatives, genetic counseling is often helpful in assessing the risk of transmission to the offspring.
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Actually the term is based Phacomatosis not on a scientific basis. They are completely different skin and nerve diseases, but they share some common characteristics. Common characteristics include the appearance of bruises, spots on the skin and their genetic origin.

Due to this fact, there is no scientifically explainable definition for the collective term phacomatosis. Only externally similar appearances are summarized. This summary of purely superficial similarities does not justify the formation of the term in the scientific sense.

However, the term phacomatosis has established itself in medicine, although it is completely superfluous. This means that hereditary tumor diseases of the skin and nervous systems have always been proven from the start. These are not tumors in the original sense, but tumor-like changes in the tissue.

Due to defective processes, excess tissue arises, in which, however, no autonomous cell division processes take place, which are otherwise common in actual benign and malignant tumors.

Today, the term phacomatosis includes such diseases as type 1 neurofibromatosis (Recklinghausen's syndrome), tuberous sclerosis (Recklinghausen's syndrome), retino-cerebellar angiomatosis (Hippel-Lindau syndrome) and encephalofacial angiomatosis (Sturge-Weber syndrome ), the ataxia telangiectatica or the Peutz-Jeghers syndrome.

causes

Since phacomatosis is a collective term, there is no common cause for these diseases. The only thing in common in the development of all phakomatoses is their hereditary condition. In order to research the cause, however, the individual diseases must be viewed independently of one another.

Type 1 neurofibromatosis is, for example, an autosomal dominant hereditary disease that is characterized by the appearance of so-called café-au-lait spots and neurofibromas. It is caused by mutating a gene that inhibits cell division. If this inhibition is suppressed, benign tissue overgrowth (harmatom) 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 a gene on chromosome 16. In retino-cerebellar angiomatosis (Hippel-Landau's 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 mutated. This gene is located on chromosome 3. The mutation is subject to an autosomal dominant inheritance. Around 50 percent of all mutations are new mutations. In encephalofacial angiomatosis (Sturge-Weber syndrome), the trigger is a so-called somatic mosaic mutation in a gene on chromosome 9.

There is a reduction in GTPase activity with a simultaneous increase in GTP signal activity. A gene on chromosome 11 is responsible for ataxia teleangiectatica (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 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 signal activity. A gene on chromosome 11 is responsible for ataxia teleangiectatica (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 the pancreas. Dangerous bleeding can occur in the area of ​​the brain stem.

Sturge-Weber syndrome (encephalofacial angiomatosis) is also characterized by vascular malformations in the eye and brain. The children are clearly delayed in development. Epileptic seizures and migraine-like headaches can occur. Ataxia teleangiectatica (Louis-Bar-Syndrome) shows symptoms like unsteadiness of walking and standing.

A physical and psychological development deficit as well as widening of the small arteries in the face and on the conjunctiva of the eye can occur. The immune system is weakened and is prone to infections. The Peutz-Jeghers syndrome is characterized by pigment spots on the mucous membranes and skin as well as multiple benign polyps (harmatoms) in the gastrointestinal tract.

Diagnosis & course of disease

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

Complications

Because of phacomatosis, those affected suffer from many different ailments. In most cases, illness-related epileptic seizures or very severe headaches occur. It is not uncommon for this pain to spread to other regions of the body and lead to discomfort there as well. Persistent pain can also lead to irritability or depression in the person concerned.

Phacomatosis sometimes leads to restricted mobility and an unsteady gait. The affected person may no longer be able to move alone and is therefore dependent on the help of other people in his or her 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 or digestive problems can occur and significantly reduce the quality of life of the person concerned.

The skin is often unclean and affected by pigment spots. There are no particular complications in the treatment of phacomatosis. In most cases, the symptoms of this disease can be limited. The patient's life expectancy is also not affected by early treatment.

When should you go to the doctor?

If skin changes and nervous system disorders occur, the cause may be phacomatosis. A visit to the doctor is advisable if the symptoms worsen quickly and affect your well-being over time. If further symptoms occur, it is best to consult your family doctor immediately. Seizures and pain attacks indicate severe phacomatoses such as enephalo-facial angiomatosis or ataxia telangiectactica, which must be treated immediately by a doctor.

If an accident or fall occurs as a result of a seizure, the emergency services must be called or the person affected should be driven quickly to the nearest clinic. Due to the different types of phacomatoses and the multitude of possible symptoms that can be associated with them, a medical evaluation is always necessary. Affected people should consult their general practitioner immediately, who can make the diagnosis based on anamnesis and a biopsy. Treatment is carried out by the dermatologist or a neurologist.

Depending on the type of symptoms, other specialists can be called in. The therapy must be closely monitored by a doctor. This ensures that no complications occur and that skin changes and neurological complaints subside. People with skin or nervous system disorders should tell their doctor if they have signs of neurofibrosis, tuberous sclerosis, or other phacomatosis.

Treatment & Therapy

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

Symptomatic therapy and the removal of tissue changes also predominate in the other phacomatoses. In some cases, epilepsy and developmental deficits need treatment. In retino-cerebellar angiomatosis, the angiomas in the eyes in particular must be removed by various methods in order to be able to maintain vision for a long time. Laser coagulation, cryotherapy, radioactive radiation (brachytherapy), transpupillary thermotherapy, photodynamic therapy and other treatment methods are suitable for this.

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Outlook & forecast

As a rule, the further course of a phacomatosis cannot be generally predicted. For this reason, a quick and, above all, very early diagnosis is primarily necessary for this disease so that no further complications or complaints arise. Self-healing cannot occur, so that the person affected with this disease is always dependent on a visit to a doctor. In the case of phacomatosis, the underlying disease must first and foremost be cured so that the symptoms are completely limited.

If the phacomatosis 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 diagnosed late. Complete cure is often not possible if the phacomatosis has a genetic origin. If you want to have children, genetic testing and counseling should be carried out in order to prevent the disease from recurring. Tumors can also be removed, but can also reappear after removal. For this reason, this disease often also reduces the life expectancy of the person affected.

prevention

Prevention of phacomatosis is not possible because they are all hereditary. If there have been cases of phacomatosis in the family or relatives, genetic counseling is often helpful in assessing the risk of transmission to the offspring.

Aftercare

In most cases, those affected with phacomatosis have very few or only very limited measures available for direct follow-up care. In this case, the person affected should consult a doctor very early on and initiate treatment so that there are no further complications or other complaints. A doctor should therefore be consulted at the first signs of the disease.

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

Those affected should always pay attention to the correct dosage and also to regular use in order to relieve the symptoms correctly and permanently. Not infrequently, those affected are also dependent on psychological support. Above all, loving and intensive discussions with one's own family have a very positive effect on the further course of the disease. As a rule, phacomatosis by itself does not reduce the patient's life expectancy.

You can do that yourself

Depending on the type and severity of the phacomatosis, those affected can take various measures to support treatment. First of all, it is important to determine the cause of the skin and nerve ailment and to eliminate the trigger.

General measures such as a change in lifestyle or a career change can lead to an 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 complexion and well-being. Nerve problems can be alleviated through physiotherapy and physical activity, in addition to drug therapy. If scars have already formed as a result of the skin problems, there are often emotional problems that need to be treated.

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