Bloch-Sulzberger syndrome

At the Bloch-Sulzberger syndrome it is an X-linked dominant hereditary disease that occurs very rarely. The disease is characterized by a range of neurological and cutaneous symptoms. Bloch-Sulzberger syndrome is synonymous with both Bloch-Siemens syndrome as well as Melanoblastosis cutis designated.

What is Bloch-Sulzberger Syndrome?

Bloch-Sulzberger syndrome is inherited in an X-linked manner and for this reason occurs predominantly in women. In general, however, it is a relatively rare disease that has only occurred in 700 cases since 1987. As part of the syndrome, typical changes develop on the skin, which in around 90 percent of affected patients already show up in the embryo in the womb.

Skin changes worsen in infancy. In addition, there are some other symptoms in Bloch-Sulzberger syndrome, such as nail dystrophies, ocular abnormalities, dental abnormalities, or central nervous system abnormalities. Many symptoms are only recognized in childhood.

In very rare cases, the syndrome also shows up in male patients and is usually referred to as Klinefelter's syndrome. The symptoms on the skin that are typical of Bloch-Sulzberger syndrome last a lifetime. They are usually the first symptoms of the disease to appear.

Later, in many cases, neurological complaints as well as anomalies of the teeth appear, some of which develop in early childhood. Basically, the mortality rate depends on the age of the patient and the severity and severity of the symptoms. In principle, Bloch-Sulzberger syndrome occurs more frequently in light-skinned people than in dark-skinned people.

causes

The Bloch-Sulzberger syndrome has mainly genetic causes. The disease develops in the affected patient through mutations on the X chromosome. The disease is predominantly inherited. A single mutation on the corresponding gene is enough to trigger Bloch-Sulzberger syndrome.

This mutation is also responsible for around 80 percent of all cases of the disease. In addition, 21 so-called point mutations have recently been identified, which may also cause Bloch-Sulzberger syndrome.

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Symptoms, ailments & signs

In the context of Bloch-Sulzberger syndrome, there are numerous different symptoms that differ from person to person depending on the individual case. Basically, the disease affects the tissue that is responsible for the formation of the neuroectoderm and ectoderm. The skin is typically involved in the disease.

In addition, in some cases the dental tissue and the central nervous system are also affected by the disease. A common symptom is the so-called ectodermal dysplasia, which not only affects the teeth but also nails and hair.

In women, changes often occur along the Blaschko lines on the skin. The symptoms on the skin develop gradually in Bloch-Sulzberger syndrome, while the other symptoms appear suddenly. Basically, different stages of the disease are differentiated.

Diagnosis & course

Various examination-technical methods are available for establishing the diagnosis of Bloch-Sulzberger syndrome, the use of which the attending physician decides after considering the individual case. There are several criteria for diagnosing Bloch-Sulzberger syndrome. As long as a NEMO mutation is not confirmed and no female relatives are affected by the disease, at least two main criteria must be met.

These include, for example, characteristic changes on the skin. Additional criteria for making the diagnosis are, for example, abnormalities in teeth, palate, eyes, breasts or the central nervous system. Anomalies of the nails, alopecia, multiple miscarriages in the past and characteristic histological results of skin examinations are also secondary criteria.

In addition, laboratory tests provide evidence of the presence of Bloch-Sulzberger syndrome. Blood tests usually reveal eosinophilia. For people with suspected Bloch-Sulzberger syndrome, a so-called karyotyping and genetic examinations must be carried out.

It is also possible to diagnose Bloch-Sulzberger syndrome via a skin biopsy. Various imaging procedures are also available for the examination, which are used to make the diagnosis reliable. Magnetic resonance imaging or computed tomography reveals a reduced blood supply and various other ischemic abnormalities that indicate the disease.

In principle, the prognosis for Bloch-Sulzberger syndrome is relatively good. Still, death can occur, especially if ophthalmic and neurological symptoms expand. As long as complications can be avoided, the prognosis is positive.

Complications

Bloch-Sulzberger syndrome generally causes severe tissue damage. This can result in different complications, which mainly depend on the region and the type of damage. Often the patient's nails and teeth are also affected, so that symptoms in the oral cavity can be felt.

Those affected suffer from toothache and bleeding. These can be treated by a dentist so that no further complications arise. In many cases, the skin is also affected by Bloch-Sulzberger syndrome, so that the so-called Blaschko lines develop on it.

The diagnosis of Bloch-Sulzberger syndrome can be carried out relatively well, so that treatment can be started immediately. This is primarily aimed at eliminating secondary infections so that there are no further complications. Since the cause of the syndrome cannot be treated, only the symptoms are treated.

Medicines are mainly used, surgical interventions are not carried out. In many cases the disease progresses positively. However, this does not guarantee that Bloch-Sulzberger syndrome will not occur again in the course of life. As a rule, life expectancy is not reduced by Bloch-Sulzberger syndrome.

When should you go to the doctor?

As a rule, no direct treatment can be carried out for Bloch-Sulzberger syndrome, so that in most cases a visit to the doctor is only for diagnosis. However, patients should also consult their doctor if Bloch-Sulzberger syndrome causes various skin complaints.

The skin complaints themselves are very different and cannot be universally predicted. However, Bloch-Sulzberger syndrome can also manifest itself through dysplasia of the nails or teeth, so that a doctor should also be consulted with these symptoms.

In many cases, the skin complaints appear very slowly and do not go away on their own. For this reason, children in particular should go to the pediatrician for regular examinations to avoid further complications.

Since the symptoms of the disease vary widely, no precise symptoms can be given by which the disease can be identified. However, a dermatologist should always be consulted in the event of skin complaints. In many cases, further infections can then be avoided with the help of antibiotics or creams.

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Treatment & Therapy

Various options are available for the treatment of Bloch-Sulzberger syndrome. First of all, it is important to prevent complications such as secondary bacterial infections. Otherwise, treating the symptoms is the only possible treatment.

Because the disease occurs as a result of a gene mutation and cannot be completely cured. For example, in some cases, anticonvulsants are used to control seizures. The affected patients are usually looked after and treated by ophthalmologists, dermatologists and neurologists.

Outlook & forecast

The prognosis for Bloch-Sulzberger syndrome is unfavorable. The genetic disease cannot be cured with current medical options and therapies. In a treatment, the symptoms that occur are specifically treated in order to alleviate the symptoms. Since there is no permanent cure, symptoms can recur at any time. Researchers and scientists are prohibited from actively interfering with human genetics. For this reason, the patient can only be offered symptomatic and not causal treatment.

Depending on the intensity of the complaints, the therapies used show good results. Without medical attention, the damage to the tissue gradually increases in size. The patient's skin can be supported with natural or home remedies.

A significant alleviation of the symptoms is hardly to be expected. The treatment plan for Bloch-Sulzberger syndrome is extensive. In most cases, several complaints have to be treated in parallel in order to improve well-being and health. Good results are achieved in drug treatment.

If the patient suffers from a drug intolerance, difficult conditions arise. The malaise increases and the existing complaints continue to spread. A healthy lifestyle is beneficial for the patient. With a balanced diet and a stable immune system, a significant improvement in well-being can be achieved.

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prevention

Since Bloch-Sulzberger syndrome is a disease with genetic causes, according to the current state of knowledge of medical and pharmaceutical research, there are no known options for preventing the disease.

Very often the first symptoms of the disease show up in unborn babies in the womb and are irreversible. It is all the more important to consult suitable specialists in the event of typical symptoms of the disease in order to improve the patient's quality of life through symptomatic therapy methods.

Aftercare

The options for follow-up care are very limited in Bloch-Sulzberger syndrome. This disease is a hereditary disease, which therefore cannot be treated causally but only symptomatically. A complete healing cannot therefore be achieved either.

Since the disease can also be passed on to children, the person affected should undergo genetic counseling if they wish to have children in order to prevent Bloch-Sulzberger syndrome from being passed on. As a rule, the symptoms of the syndrome are relieved with the help of medication. The patient should ensure that these medications are taken regularly to prevent further complications.

Interactions with other drugs must also be considered. Since this syndrome leads to severe dermatological complaints, regular visits to a dermatologist are essential. It is not uncommon for Bloch-Sulzberger syndrome to be associated with psychological complaints, depression or other upsets.

Talking to friends or family is helpful to alleviate these symptoms. Contact with other sufferers of the syndrome can also have a positive effect on the course of the disease. The life expectancy of the patient is usually not negatively influenced by Bloch-Sulzberger syndrome.

You can do that yourself

Since a gene mutation is responsible for Bloch-Sulzberger syndrome, there are no self-help measures that have a causal effect. Those affected or their relatives can also contribute to alleviating the symptoms or to cope better with them.

Various skin lesions, including severe pigment disorders, are characteristic of the disease. This symptom is disturbing for those affected, especially from a social point of view. Children are often teased by their peers, adolescents and adults often develop inhibitions when dealing with others because of their appearance or feel discriminated against because of their appearance.

Pure pigment disorders can often be corrected cosmetically. For this purpose, special camouflage make-up can be purchased in pharmacies and drugstores, which has a particularly high coverage, is water-resistant and lasts up to 24 hours. Those affected can learn how to use them in specialist shops or from beauticians. In any case, patients suffering from their skin lesions should consult a dermatologist and obtain information about aesthetic treatment options.

If the jaw or teeth develop incorrectly, the patient or his supervisor should definitely consult an expert who specializes in aesthetic dentistry. Often the malformations can be corrected by oral surgery or dentures.

If intellectual development is also impaired, parents should provide their child with appropriate early intervention in good time. In the case of speech disorders and restricted development of motor skills, a speech therapist and an occupational therapist should also be consulted.