Bloch-Sulzberger Syndrome

Meanings of Bloch-Sulzberger Syndrome

When Bloch-Sulzberger syndrome is an X-linked dominant inherited disease that is very rare. The disease is characterized by a range of neurological and cutaneous symptoms. Bloch-Sulzberger syndrome is synonymous with both Bloch-Siemens syndrome and melanoblastosis cutis.

What is Bloch-Sulzberger Syndrome?

According to, 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.

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

The syndrome also shows up in male patients in very rare cases and is usually referred to here as Klinefelter 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, there are neurological complaints and anomalies of the teeth, 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.


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 were recently identified, which may also cause Bloch-Sulzberger syndrome.

Symptoms, ailments & signs

In the context of Bloch-Sulzberger syndrome, there are numerous different symptoms that differ from one individual to the next. 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 in Bloch-Sulzberger syndrome develop gradually, while the other symptoms appear suddenly. Basically, a distinction is made between different stages of the disease.

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 establishing the diagnosis are, for example, abnormalities in the 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. In the context of blood tests usually eosinophilia its appearance. 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 methods are also available for the examination, which are used to ensure the diagnosis is reliable. As part of a magnetic resonance imaging or computed tomography to a reduced blood supply and various other ischemic deviations that indicate the disease show.

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


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 discomfort in the oral cavity can become noticeable.

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. As 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 a visit to the doctor is in most cases 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. In the event of skin complaints, however, a dermatologist should always be consulted. In many cases, further infections can then be avoided with the help of antibiotics or creams.

Treatment & Therapy

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

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 poor. 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, the 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 symptoms, the therapies used show good results. Without medical care, tissue damage gradually increases in size. The patient’s skin can be supported with natural or home remedies.

A significant alleviation of the symptoms, however, 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 supportive for the patient. With a balanced diet and a stable immune system, a significant improvement in well-being can be achieved.


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 appear in unborn babies in the womb and are irreversible. It is all the more important to consult suitable specialists in the case of typical symptoms of the disease in order to improve the patient’s quality of life through symptomatic therapy methods.


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

Since the disease can also be passed on to children, the person affected should undergo genetic counseling if they want 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.

Conversations with friends or with your own family are helpful here in order to alleviate these complaints. 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 help themselves to alleviate the symptoms or to cope better with them.

Various skin lesions, including severe pigmentation 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 for 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 take care of suitable early intervention for their child 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.

Bloch-Sulzberger Syndrome

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