What is Brooke-Spiegler Syndrome used for?

The following article explains what is known as Brooke-Spiegler syndrome. After a precise definition of the hereditary disease, its causes and possible symptoms, the course, treatment and prevention are set out.

What is Brooke-Spiegler Syndrome?

The term Brooke-Spiegler syndrome refers to a very rare hereditary disease in which skin tumors and tumors of skin appendages (hair, glands, nails) occur with an above-average frequency. The likelihood of developing tumors of the thyroid and salivary glands is also increased.


The cause of the disease is 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 this gene is mutated, the division of damaged cells cannot be prevented.

There is uncontrolled growth of cells and, as a result, the development of tumors. The gene that is associated with Brooke-Spiegler syndrome is located on the 16th of the 32 paired chromosomes in the human genome. The rare disease is inherited in an autosomal dominant manner.

Thus, a defective allele, i.e. an expression of a gene on a chromosome pair of the same type, is sufficient to express the genetic characteristic of the disease. The presence of the trait may or may not lead to the onset of the disease. As a result, Brooke-Spiegler syndrome occurs in families.

Symptoms, ailments & signs

Brooke-Spiegler syndrome is manifested by pathological conditions, that is, changes in the skin and hair. The changes often occur on the head, but can occur anywhere on the skin. It comes to rashes, eczema, ulcers, the formation of scabs and warts and later in the development of tumors.

The changes in the hair manifest themselves in noticeably severe hair loss, dandruff and baldness. The symptoms mentioned are only visible when the disease has progressed, especially with thick, long and thick hair. At an advanced stage, the entire scalp can be covered with swelling and tumors.

This can result in psychological stress due to the cosmetic changes to the skin. The usual symptoms of cancer such as weight loss, exhaustion, tiredness and pain, especially of the skin, also occur secondarily. The tumors that occur can be both benign and malignant. The changes in the skin and hair usually become visible for the first time in early adulthood.

Diagnosis & course

Brooke-Spiegler syndrome can be diagnosed by a dermatologist. If necessary, the dermatologist will then take the first steps towards treatment. A referral to a specialist or a dermatological clinic may also be possible.

In addition to the externally visible changes in the skin, a clear diagnosis can be made at a very early stage by performing a genetic test. If the disease is present, it clearly shows a typical mutation and thus leads to a reliable result without any doubt.

The course of the disease depends heavily on the stage at which the disease is diagnosed and whether the tumors that occur are benign, benign, or malignant, i.e. malignant. The development of ever larger tumors in increasing numbers is characteristic of the course of the hereditary disease.

When should you go to the doctor?

In the case of Brooke-Spiegler syndrome, a doctor should always be consulted if there are various changes or complaints on the skin that cannot be attributed to a specific reason. These are rashes on the skin and growths.

The earlier these complaints are diagnosed, the better the chances of a complete cure. Dandruff or hair loss can also indicate Brooke-Spiegler syndrome and should definitely be treated by a doctor.

Since it is the formation of tumors on the scalp, life expectancy also increases here if the tumors are discovered early. Brooke-Spiegler syndrome can also lead to fatigue and fatigue. Weight loss and unexplained pain also occur.

Therefore, if these complaints can also be recognized, a doctor must be contacted in any case. A dermatologist should be consulted. Further treatment is then either carried out by the dermatologist or directly in the hospital. It cannot be predicted whether the disease will develop positively.

Treatment & Therapy

Since Brooke-Spiegler syndrome is a genetic disorder, a causal treatment is not possible. The resulting tumors can be removed by one or more surgical interventions. If there is a large number of tumors, chemotherapy can be used to remove the tumors and prevent them from spreading.

In chemotherapy, substances are used 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 full recovery for a short time, the removed tumors will return in the long term.

This problem is based on the fact that the cause of the mutation in the damaged gene cannot be combated, which means that uncontrolled division and, as a result, the reproduction of damaged cells occurs again. These cells lead to renewed tumor formation, so that a recurring cycle is created that prevents the affected person from completely healing.

As with chemotherapy, complications can arise when removing the tumors. Depending on the extent of the tumors, removing them can injure nerves and muscles. In addition to the disease-causing cells to be combated, chemotherapy can also kill healthy cells.

This killing of healthy cells weakens the body, which in turn slows healing. In recent years, the so-called high-frequency ablation method has found increasing use in those affected. It is a medical method used locally to destroy tissue.

No permanent healing can be achieved in this way, but the cosmetic damage to the skin can be counteracted. This makes it easier for those affected to deal with the disease.

Outlook & forecast

A complete cure of Brooke-Spiegler syndrome cannot usually be achieved because the cause of the syndrome cannot be treated. Since those affected suffer from the development of tumors in different parts of the body, this can significantly reduce the patient’s life expectancy. Here, however, the further course depends very much on the exact form of the tumors and the location of occurrence, so that a general prognosis cannot be given.

If these tumors are not treated, the patient will die prematurely due to the metastasis. The scalp in particular is affected by the tumors. The individual symptoms of the scalp are limited with the help of medication.

The symptoms appear for the first time in young adulthood. If diagnosed early, most of the growths can be removed. Those affected are, however, dependent on regular examinations in the further course in order to prevent the tumors from recurring.

If the tumor spreads unfavorably, it leads to the usual tumor complaints and ultimately to death of the person concerned. The prognosis for this syndrome is poor, especially if Brooke-Spiegler syndrome is discovered late.


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 carried out as early as infancy can show whether there is a mutation in the corresponding gene. If the result is positive, you can quickly take the necessary measures at the first signs of the disease.

You can do that yourself

Brooke-Spiegler syndrome is a genetic disorder. It is hereditary. Those affected cannot therefore take any measures themselves to remedy 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 can most likely be successful in contact with other affected persons. 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 stress can be reduced in this way. Since the disease is often visually noticeable, relatives and friends are of great importance. In everyday life, you can contribute to the fact that those affected feel valued despite the flaws. The external appearance can sometimes be improved by using cosmetics.

If, on the other hand, there is exhaustion, tiredness or pain, loved ones can take on a helper role. Various everyday tasks such as shopping and cooking can be taken over by them in low phases. Often it also improves the mood when everyday challenges are accepted together. Since regular employment is often not possible when Brooke-Spiegler syndrome is diagnosed, sufferers should give their day a framework.

Brooke-Spiegler Syndrome