Phacomatosis is a collective term for hereditary diseases of the skin and nervous system, which are characterized by the appearance of harmatomas in various organ systems. The individual diseases have nothing to do with each other, but are provisionally grouped together on the basis of disease characteristics and their causes. Because phakomatoses have a genetic basis, they cannot be treated causally.
What is phacomatosis?
Actually, the term phakomatosis does not have a scientific basis. They are completely different skin and nerve disorders, but they share some common features. The common features include the appearance of hematomas, spots on the skin and their genetic origin. Due to this fact, there is no scientifically explainable definition for the collective term phakomatosis. Only externally similar appearances are summarized. However, this summary of purely superficial similarities does not justify the term in the scientific sense. However, the term phakomatosis has become established in medicine, although it is completely superfluous. From the beginning, this term has always been used to refer to hereditary tumor diseases of the skin and nervous systems. However, these are not tumors in the original sense, but rather tumor-like changes of the tissue. Due to defective processes, excess tissue is formed, in which, however, no autonomous cell division processes take place, which are otherwise common in the actual benign and malignant tumors. Thus, the term phacomatosis is now used to include such disorders as neurofibromatosis type 1 (Recklinghausen syndrome), tuberous sclerosis (Recklinghausen syndrome), retino-cerebellar angiomatosis (Hippel-Lindau syndrome), encephalo-facial angiomatosis (Sturge-Weber syndrome), ataxia teleangiectatica, or Peutz-Jeghers syndrome.
Causes
Because phakomatosis is a collective term, there is also no single cause for these disorders. The only thing common to the development of all phakomatoses is their hereditary condition. However, for causal research, the individual diseases must be considered independently of each other. Neurofibromatosis type 1, for example, is an autosomal-dominant inherited disease characterized by the appearance of so-called café-au-lait spots and neurofibromas. It is caused by the mutation of a gene that contributes to the inhibition of cell division. If this inhibition is suppressed, benign tissue overgrowth (harmatoma) occurs. The gene responsible for this is located on chromosome 17. Tuberous sclerosis, in turn, is an autosomal dominant disease caused by mutations of either a gene on chromosome 9 or a gene on chromosome 16. In retino-cerebellar 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 subject to autosomal dominant inheritance. Approximately 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, resulting in a reduction in GTPase activity with a simultaneous increase in GTP signaling activity. A gene on chromosome 11 is responsible for ataxia teleangiectatica (Louis Bar syndrome). The mode of inheritance is autosomal recessive. This gene is responsible for the coding of the serine-protein kinase ATM. Serine protein kinase ATM senses DNA damage and regulates DNA repair processes.
Symptoms, complaints, and signs
In encephalofacial angiomatosis (Sturge-Weber syndrome), the trigger is a so-called somatic mosaic mutation in a gene of chromosome 9. There is a reduction in GTPase activity with a concomitant increase in GTP signaling activity. A gene on chromosome 11 is responsible for ataxia teleangiectatica (Louis Bar syndrome). The mode of inheritance is autosomal recessive. This gene is responsible for the coding of the serine-protein kinase ATM. The serine protein kinase ATM detects DNA damage and regulates DNA repair processes. Tumor-like tissue changes are also sometimes present in the kidneys, adrenal glands, or pancreas. Dangerous hemorrhages can occur in the brain stem area.Sturge-Weber syndrome (encephalofacial angiomatosis) is also characterized by vascular malformations in the eye and brain. The children are significantly developmentally delayed. Epileptic seizures and migraine-like headaches may occur. Ataxia teleangiectatica (Louis Bar syndrome) presents with symptoms such as gait and stance instability. Physical and psychological developmental delay and dilatation of the small arteries in the face and on the conjunctiva of the eye may also occur. The immune system is weakened with a tendency to infections. In turn, Peutz-Jeghers syndrome is characterized by pigmented spots on mucous membranes and skin and multiple benign polyps (harmatomas) in the gastrointestinal tract.
Diagnosis and course of the disease
Diagnosis can often be made by the typical symptoms of the diseases. Imaging techniques, for example, show changes in the brain.
Complications
Because of phacomatosis, affected individuals suffer from many different symptoms. In most cases, epileptic seizures or very severe headaches occur due to the disease. These pains often spread to other regions of the body and cause discomfort there as well. Likewise, permanent pain can lead to irritability or depression in the affected person. Sometimes phacomatosis leads to restricted movement and an unsteady gait. The affected person may no longer be able to move on his own and is therefore dependent on the help of other people in his daily life. Due to the disease, the immune system is also severely weakened, so that infections and inflammations occur more frequently in the affected person. Stomach or digestive problems can occur and significantly reduce the quality of life of the affected person. The skin is not infrequently blemished and affected by pigment spots. There are no particular complications in the treatment of phakomatosis. In most cases, the symptoms of this disease can be well limited. The patient’s life expectancy is also not affected if treated early.
When should one go to the doctor?
If skin changes and nervous system disorders occur, phakomatosis may be underlying. A visit to the doctor is advised if the symptoms rapidly become more severe and in the course affect the well-being. If further symptoms occur, it is best to consult the family doctor immediately. Seizures and pain attacks indicate serious phakomatoses such as enephalo-facial angiomatosis or ataxia teleangiectactica, which should be treated immediately by a physician. If an accident or fall occurs as a result of a seizure, emergency medical services must be called or the affected person should be driven quickly to the nearest hospital. Due to the various types of phakomatosis and the large number of possible symptoms that can be associated with them, medical clarification is always necessary. Affected persons should immediately consult their general practitioner, who can make a diagnosis on the basis of a medical history and a biopsy. 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 physician. This ensures that no complications occur and that skin changes and neurological symptoms subside. Individuals suffering from diseases of the skin or nervous system should inform the physician if signs of neurofibrosis, tuberous sclerosis, or other phakomatosis occur.
Treatment and therapy
Treatment of phakomatosis depends on the underlying disease in question. A cure is not possible for all phakomatoses because they are all genetic. In neurofibromatosis, the newly growing neurofibromas and tumors have to be removed constantly. Otherwise, symptomatic treatment is given. In the other phacomatoses, symptomatic therapy and removal of tissue lesions also predominate. In some cases, epilepsies and developmental retardations need to be treated. In retino-cerebellar angiomatosis, especially the angiomas in the eyes must be removed by various methods in order 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 purpose.
Outlook and prognosis
The further course of phacomatosis usually cannot be predicted in general. For this reason, in the first place, a quick and, above all, a very early diagnosis is necessary in this disease, so that it does not come to the appearance of further complications or complaints. It is also not possible for the disease to heal itself, so that the person affected by this disease is always dependent on a visit to a doctor. Likewise, in the case of phakomatosis, the underlying disease must be cured first and foremost so that the complaints are completely limited. If 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 the affected person may also be reduced if the disease is detected late. A complete cure is often not possible if phakomatosis has a genetic origin. In this case, genetic testing and counseling should be performed if the patient wishes to have children in order to prevent a recurrence of the disease. Tumors can also be removed, but can recur after removal. For this reason, this disease not infrequently also reduces the life expectancy of the affected person.
Prevention
Prevention from phakomatosis is not possible because they are all hereditary. If cases of phakomatosis have occurred in the family or relatives, human genetic counseling is often helpful to assess the risk of passing the disease on to offspring.
Follow-up
In most cases, affected individuals with phakomatosis have very few or even very limited measures of direct aftercare available to them. In this regard, the affected person should see a doctor very early in this disease and initiate treatment to prevent further complications or other ailments. A doctor should therefore be consulted at the very first signs of the disease. In some cases, the disease cannot be completely cured if it has a genetic origin. In this case, those affected should have a genetic examination and consultation if they wish to have children again. The disease itself can be treated by the application of various creams or ointments. Those affected should always pay attention to the correct dosage and also to regular application in order to alleviate the symptoms properly and permanently. Not infrequently, those affected are also dependent on psychological support. Here, especially loving and intensive conversations with one’s own family have a very positive effect on the further course of the disease. As a rule, phacomatosis itself does not reduce the patient’s life expectancy.
What you can do yourself
Depending on the type and severity of phacomatosis, sufferers can take various steps to help treat it. First, it is important to determine the cause of the skin and nerve condition and eliminate the trigger. General measures such as a change in lifestyle or a change in occupation 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 by witch hazel, St. John’s wort and other preparations that have a positive effect on the skin’s appearance and well-being. Nerve complaints can be alleviated by physiotherapy and sporting activities in addition to drug therapy. If scars have already formed as a result of the skin problems, there are often also psychological problems that need to be treated. The doctor can also establish contact with other sufferers and refer patients to a self-help group, for example. Holistic treatment of the symptoms is necessary to enable the sufferers to lead a relatively symptom-free life. Due to the variety of possible phakomatoses, a specialist must always be consulted before self-help measures are initiated.