In the following article, the so-called Brooke-Spiegler syndrome is explained. After a precise definition of the hereditary disease, its causes as well as possibly occurring symptoms, the course, treatment and its prevention are outlined.
What is Brooke-Spiegler syndrome?
The term Brooke-Spiegler syndrome refers to a very rare hereditary disorder in which skin tumors and tumors of skin appendages (hair, glands, nails) occur with an above-average frequency. Likewise, the probability of developing tumors of the thyroid gland and salivary glands is increased.
Causes
The cause of the disease is thought to be a very rare genetic disorder. It is a mutation of a tumor suppressor gene. This type of gene serves to prevent the uncontrolled division of damaged cells and thus counteract the development of tumors. If a mutation of this gene is present, the division of damaged cells cannot be prevented. This leads to uncontrolled proliferation of cells and consequently to the development of tumors. The gene associated with Brooke-Spiegler syndrome is located on the 16th of the 32 paired chromosomes of the human genome. Inheritance of the rare disease is autosomal dominant. Thus, one defective allele, i.e. one expression of a gene on a similar pair of chromosomes, is sufficient to express the genetic trait of the disease. The presence of the trait can, but need not, lead to the onset of the disease. As a result, Brooke-Spiegler syndrome runs in families.
Symptoms, complaints, and signs
Brooke-Spiegler syndrome is manifested by pathological conditions, that is, changes, of the skin and hair. The changes often occur on the head, but can occur on any part of the skin. There are rashes, eczema, tumors, the formation of scabs and warts, and later the development of tumors. The changes in the hair are manifested in conspicuous hair loss, dandruff and baldness. The above-mentioned symptoms are only visible when the disease has already progressed, especially in the case of dense, thick and long hair. In advanced stages, the entire scalp may be covered by growths and tumors. This can result in psychological distress due to the cosmetic changes in the skin. Furthermore, the usual symptoms of cancer such as weight loss, fatigue, tiredness and pain, especially of the skin, occur secondarily. The tumors that occur can be benign or malignant. In most cases, the changes in the skin and hair first become apparent in early adulthood.
Diagnosis and progression
Brooke-Spiegler syndrome can be diagnosed by a dermatologist. The dermatologist will also subsequently take initial steps toward treatment, if necessary. In some circumstances, referral to a specialist or dermatology clinic may also be made. In addition to the externally visible changes in the skin, a definite diagnosis can be made at a very early stage by performing a genetic test. If the disease is present, this test clearly detects a typical mutation and thus leads to a definite result. The course of the disease strongly depends on the stage at which the disease is diagnosed and whether the tumors are benign or malignant. Characteristic of the course of the hereditary disease is the development of increasingly larger tumors in increasing numbers.
When should you go to the doctor?
In Brooke-Spiegler syndrome, a doctor should be consulted whenever there are various changes or discomforts on the skin that are not due to any particular cause. These are rashes on the skin and growths. The earlier these complaints are diagnosed, the better the prospects for a complete cure. Dandruff or hair loss can also be indicative of Brooke-Spiegler syndrome and should definitely be treated by a doctor. Since it involves the formation of tumors on the scalp, life expectancy also increases here if the tumors are detected early. Furthermore, Brooke-Spiegler syndrome can also lead to fatigue and tiredness.Weight loss and unexplained pain also occur. Therefore, if these complaints are also seen, a doctor must be contacted in any case. A dermatologist should be consulted. Further treatment is then carried out either by the dermatologist or directly in the hospital. Whether it comes to a positive course of the disease, can not be predicted.
Treatment and therapy
Because Brooke-Spiegler syndrome is a genetic disorder, causative treatment is not possible. The resulting tumors can be removed by one or more surgical procedures. In the case of a large number of tumors, chemotherapy may be used to remove the tumors and prevent them from spreading. Chemotherapy involves the use of substances that have a damaging effect on the cells that cause the disease. In this way, they are killed or their growth is inhibited. Although chemotherapy can lead to complete recovery for a short time, the tumors that have been removed return in the long term. This problem is based on the fact that the mutation of the damaged gene cannot be causally combated and thus uncontrolled division and thus multiplication of damaged cells occurs again. These cells lead to renewed tumor formation, creating a recurring cycle that prevents the affected person from being completely cured. Complications can arise during the removal of tumors, just as they do during chemotherapy. Depending on the extent of the tumors, nerves and muscles may be injured during their removal. During chemotherapy, in addition to the disease-causing cells that are being fought, healthy cells can also be killed. This killing of healthy cells weakens the body, which in turn slows down the progress of healing. In recent years, the method known as radiofrequency ablation has found increasing use among sufferers. This is a medical method that is applied locally to destroy tissue. Although this does not provide a permanent cure, it can counteract the cosmetic damage to the skin. This makes it easier for those affected to cope with the condition.
Outlook and prognosis
A complete cure for Brooke-Spiegler syndrome usually cannot be achieved because the syndrome cannot be treated causally. Because affected individuals suffer from the development of tumors in various parts of the body, this can significantly reduce the patient’s life expectancy. In this case, however, the further course depends very much on the exact characteristics of the tumors and the site of occurrence, so that a general prognosis cannot be given. If these tumors are not treated, the patient dies prematurely due to metastasis. In this case, the scalp is mainly affected by the tumors. The individual symptoms of the scalp are limited with the help of medication. The symptoms first appear in young adulthood. If they are diagnosed early, most tumors can be removed. However, those affected are dependent on regular examinations in the further course of the disease in order to prevent the recurrence of the tumors. If the tumor spreads unfavorably, the usual tumor symptoms occur and eventually the affected person dies. The prognosis for this syndrome is poor, especially if Brooke-Spiegler syndrome is discovered late.
Prevention
No preventive measures can be taken against Brooke-Spiegler syndrome because it is a genetic disorder. If it is known that there is a genetic predisposition in the family, a genetic test that can be performed as early as infancy can show whether there is a mutation of the corresponding gene. If the result is positive, the necessary measures can be taken quickly at the first signs of the disorder.
What you can do yourself
Brooke-Spiegler syndrome is a genetic disorder. It is hereditary. Therefore, affected individuals cannot take any action themselves to correct the causes. Surgical removal of the tumors is usually inevitable. Apart from medical treatment, however, patients can make a contribution to alleviating the symptoms. Self-help is most likely to succeed in contact with other sufferers. Small groups in which an open exchange takes place are ideal. Fears, feelings and worries can be addressed in this way.At least the psychological burden can be reduced in this way. Since the disease is also often visually noticeable, relatives and friends are of great importance. In everyday life, they can help those affected to feel valued despite their blemishes. The external appearance can sometimes be improved by cosmetics. If, on the other hand, there is fatigue, tiredness or pain, those close to the patient can play a helping role. Various everyday tasks such as shopping and cooking can be taken over by them during low phases. Often it also improves the mood when everyday challenges are taken on together. Since holding a regular job is often not possible when diagnosed with Brooke-Spiegler syndrome, sufferers should give their day a framework.
