Bloch-Sulzberger syndrome is an X-linked dominant inherited disorder that is very rare. The disorder is characterized by a range of neurologic and cutaneous symptoms. Bloch-Sulzberger syndrome is synonymously referred to as both Bloch-Siemens syndrome and melanoblastosis cutis.
What is Bloch-Sulzberger syndrome?
Bloch-Sulzberger syndrome is inherited in an X-linked manner and for this reason occurs predominantly in females. In general, however, it is a relatively rare disorder, with only 700 cases since 1987. As part of the syndrome, typical changes develop on the skin, which in approximately 90 percent of affected patients are already apparent in the embryo in the womb. The skin changes worsen in infancy. In addition, Bloch-Sulzberger syndrome is associated with a number of other symptoms, such as dystrophies of the nails, ocular anomalies, dental anomalies, or anomalies of the central nervous system. Numerous symptoms are recognized only in the course of childhood. In very rare cases, the syndrome also manifests in male patients and is usually referred to here as Klinefelter syndrome. The typical appearances of Bloch-Sulzberger syndrome on the skin remain throughout life. They are usually the first symptoms of the disease to become visible. Later, in many cases, neurological symptoms are added, as well as abnormalities of the teeth, some of which develop in early childhood. Basically, the mortality rate depends on the age of the patient as well as the expression and severity of the symptoms. In principle, Bloch-Sulzberger syndrome occurs more frequently in fair-skinned than in dark-skinned individuals.
Causes
Bloch-Sulzberger syndrome has mainly genetic causes. Mutations on the X chromosome cause affected patients to develop the disease. The disease is inherited in a dominant manner. Even a single mutation on the corresponding gene is sufficient to trigger Bloch-Sulzberger syndrome. This mutation is also responsible for about 80 percent of all cases of the disease. In addition, 21 so-called point mutations have recently been identified that may also cause Bloch-Sulzberger syndrome.
Symptoms, complaints, and signs
In the context of Bloch-Sulzberger syndrome, numerous different symptoms manifest themselves, which vary individually depending on the case. Basically, the disease affects the tissue responsible for the formation of neuroectoderm and ectoderm. Typically, the skin is involved in the disease. In addition, in some cases the disease also affects the dental tissue as well as the central nervous system. A common symptom is the so-called ectodermal dysplasia, which, in addition to the teeth, sometimes also affects the nails and hair. In women, changes often occur along the Blaschko lines on the skin. The appearances on the skin develop gradually in Bloch-Sulzberger syndrome, while the other symptoms appear suddenly. Basically, different stages of the disease are distinguished.
Diagnosis and progression
Various investigative methods are available to establish the diagnosis of Bloch-Sulzberger syndrome, and the attending physician decides whether to use them after considering the individual case. Several criteria exist for the diagnosis of Bloch-Sulzberger syndrome. As long as a NEMO mutation is not considered 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. Secondary criteria for making the diagnosis include abnormalities of the teeth, palate, eyes, breasts, or central nervous system. Abnormalities 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. In individuals with suspected Bloch-Sulzberger syndrome, so-called karyotyping and genetic testing should be performed. It is also possible to diagnose Bloch-Sulzberger syndrome via a biopsy of the skin.Various imaging methods of examination are also available, which are used to establish the diagnosis with certainty. Magnetic resonance imaging or computed tomography reveal a reduced blood supply as well as various other ischemic abnormalities that are indicative of the disease. In principle, the prognosis for Bloch-Sulzberger syndrome is relatively good. Nevertheless, death may occur, especially if ophthalmologic and neurologic symptoms progress. However, as long as complications are preventable, the prognosis is positive.
Complications
Bloch-Sulzberger syndrome generally causes severe tissue damage. This can result in various complications, depending mainly on the region and type of damage. Often, the patient’s nails and teeth are also affected, so that complaints in the oral cavity may become apparent. In this case, the affected person suffers from toothache and bleeding. These can be treated by a dentist so that no further complications occur. In many cases, the skin is also affected by Bloch-Sulzberger syndrome, so that the so-called Blaschko lines form on it. The diagnosis of Bloch-Sulzberger syndrome can be carried out relatively well, so that treatment can be started immediately. This is aimed primarily at eliminating secondary infections so that no further complications occur. Since the syndrome cannot be treated causally, only the symptoms are treated. Medications are mainly used, surgical interventions do not take place. In many cases, the course of the disease is positive. However, this does not ensure that Bloch-Sulzberger syndrome will not occur again in the course of life. In general, life expectancy is not reduced by Bloch-Sulzberger syndrome.
When should you see a doctor?
Usually, Bloch-Sulzberger syndrome cannot be treated directly, so in most cases, a visit to the doctor is only for diagnosis. However, patients should also see the doctor if Bloch-Sulzberger syndrome causes various skin complaints. The skin complaints themselves vary widely and cannot be universally predicted. However, Bloch-Sulzberger syndrome can also be manifested by dysplasia of the nails or teeth, so a doctor should also be consulted for these symptoms. In many cases, the skin symptoms appear very slowly and do not disappear on their own. For this reason, especially children should go to regular examinations at the pediatrician to avoid further complications. Since the symptoms of the disease are very different, no exact symptoms can be named, according to which the disease can be identified. However, in case of skin complaints, a dermatologist should always be consulted. In many cases, further infections can then be avoided with the help of antibiotics or by using creams.
Treatment and therapy
Several options are available as part of the therapy for Bloch-Sulzberger syndrome. First, it is important to prevent complications such as secondary infections with bacteria. Otherwise, therapy of the symptoms is the only option for treatment. This is because the disease occurs as a result of a gene mutation and cannot be completely cured. In some cases, for example, anticonvulsants are used to control seizures. Affected patients are usually managed and treated by ophthalmologists, dermatologists, and neurologists.
Outlook and prognosis
The prognosis of Bloch-Sulzberger syndrome is unfavorable. The genetic disorder cannot be cured with current medical options and therapies. In a course of treatment, the symptoms that occur are targeted to provide relief. 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 applied therapies show good results. Without medical care, the damage to the tissue gradually increases in extent. Natural or home remedies can be used to support the patient’s skin.However, a significant relief of the symptoms can hardly 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 the well-being and feeling of health. Good results are achieved in a drug treatment. If the patient suffers from drug intolerance, conditions become more difficult. The discomfort increases and the existing complaints spread further. Supportive for the patient is a healthy lifestyle. With a balanced diet and a stable immune system, a significant improvement in well-being can be achieved.
Prevention
Since Bloch-Sulzberger syndrome is a disease with genetic causes, there are no known options for prevention of the disease according to current knowledge of medical and pharmaceutical research. Very often, the first symptoms of the disease appear in unborn babies in the womb and are irreversible. It is therefore all the more important to consult appropriate specialists when typical symptoms of the disease appear, in order to improve the patient’s quality of life through symptomatic therapeutic methods.
Follow-up
The options for follow-up care are very limited in Bloch-Sulzberger syndrome. It is a hereditary disease and therefore cannot be treated causally, only symptomatically. A complete cure can therefore not be achieved. Since the disease can also be inherited by children, the affected person should undergo genetic counseling if he or she wishes to have children in order to prevent the Bloch-Sulzberger syndrome from being passed on. As a rule, the symptoms of the syndrome are alleviated with the help of medication. The patient should make sure to take these medications regularly to prevent further complications. Likewise, interactions with other medications must be taken into account. Since this syndrome causes severe dermatological symptoms, regular visits to a dermatologist are also essential. It is not uncommon for Bloch-Sulzberger syndrome to be associated with psychological complaints, depression or other moods. In this case, conversations with friends or with one’s own family are helpful to alleviate these complaints. Contact with other people affected by the syndrome can also have a positive effect on the course of the disease. The patient’s life expectancy is usually not negatively affected by Bloch-Sulzberger syndrome.
What you can do yourself
Since a gene mutation is responsible for Bloch-Sulzberger syndrome, there are no self-help measures that have a causal effect. However, affected individuals or their relatives can help alleviate symptoms or cope with them better themselves. Characteristic of the disease are various skin lesions including severe pigmentation disorders. This symptom is particularly disturbing for those affected from a social point of view. Children are often teased by their peers, adolescents and adults often develop inhibitions in dealing with others because of their appearance or feel discriminated against because of their appearance. However, pure pigment disorders can often be corrected cosmetically. For this purpose, special camouflage makeup can be purchased in pharmacies and drugstores, which has particularly high coverage, is water-resistant and lasts up to 24 hours. Those affected can learn how to apply it correctly from specialist retailers or cosmeticians. In any case, patients suffering from their skin lesions should consult a dermatologist and obtain information about aesthetic treatment options. In the case of malformations of the jaw or teeth, the patient or his or her caregivers should definitely consult an expert who specializes in aesthetic dentistry. Often, the malformations can be corrected by oral surgery or dentures. If mental development is also impaired, parents should seek appropriate early intervention for their child in a timely manner. In the case of speech disorders and limited development of motor skills, a speech therapist and an occupational therapist should also be consulted.
