Schöpf-Schulz-Passarge syndrome is a skin disorder. It occurs very rarely and is a hereditary disease. Patients experience symptoms mainly in the head and face area.
What is Schöpf-Schulz-Passarge syndrome?
Schöpf-Schulz-Passarge syndrome was named after their discoverers. For the first time in 1971, German physicians and dermatologists Erwin Schöpf, Hans-Jürgen Schulz and Eberhard Passarge reported this very rare disease. The syndrome is a disease of the skin caused by a genetic defect. The hereditary disease primarily causes benign tumors as well as cysts on the face. Furthermore, disorders of the teeth and body hair are part of the appearance of Schöpf-Schulz-Passarge syndrome. Mostly, the skin changes occur on the eyelids of the patients. In addition, there may be formation of calluses on the hands or feet. The affected regions are especially the palms of the hands as well as the soles of the feet. With a frequency of less than 1:1 million, Schöpf-Schulz-Passarge syndrome is diagnosed. Thus, it is a very rare disorder that appears shortly after birth, in childhood, or in adolescence.
Causes
The cause of Schöpf-Schulz-Passarge syndrome is a hereditary genetic defect. Mutation of the WNT10A gene leads to various symptoms and eventually to diagnosis of the disease. The WNT genes are important in the stage of embryo development. The alteration of the gene is inherited autosomal recessively from the parents to their child. As a result, the gene defect is not necessarily passed on to the children. The onset of the disease is automatically prevented if a dominant allele prevails in its trait expression over a recessive allele during the developmental phase of the embryo. It is unclear whether the genetic defect is also inherited in an autosomal-dominant manner. According to the current state of science, this has not yet been conclusively clarified.
Symptoms, complaints, and signs
Sufferers of Schöpf-Schulz-Passarge syndrome exhibit cysts on the eyelids. These are usually described as cylindrical in shape and referred to as apocrine gland cysts. Patients develop benign tissue neoplasms called hidrocytomas. In the midface, Schöpf-Schulz-Passarge syndrome results in dilated capillary vessels in the skin. In so-called teleangiectatic rosacea, irreversible vascular dilatation occurs that is easily seen with the naked eye. Other symptoms of the syndrome include hypotrichosis as well as hypodontia. Hypotrichosis refers to a decreased number of hairs in the patient. In Schöpf-Schulz-Passarge syndrome, there may also be an absence of eyelash and eyebrow hair. Hypodontia is an undercount of teeth in the diseased person. This can be one or more teeth, which are basically not laid out in the patient. In individual cases, nail dystrophy occurs in Schöpf-Schulz-Passarge syndrome. These are growth disorders of the fingernails or toenails. Patients are also diagnosed with palmoplantar keratosis as they get older. These are sites of cornification on the palms of the hands as well as the soles of the feet.
Diagnosis and course of the disease
Most symptoms of Schöpf-Schulz-Passarge syndrome are usually apparent shortly after birth or in the first few weeks of life. After a period of observation and, various tests are performed. The syndrome is finally diagnosed via genetic testing. Because some symptoms, such as the absence of teeth and cornification of the hands and feet, do not become apparent until the first few years of life, patients develop the other signs as the disease progresses.
Complications
First and foremost, those affected with Schöpf-Schulz-Passarge syndrome suffer from severe skin complaints. These occur predominantly on the face and can have a very negative impact on the aesthetics and thus also on the quality of life of the affected person. In many cases, patients feel unwell due to the complaints and may also suffer from inferiority complexes or significantly reduced self-esteem. In children or in adolescents, Schöpf-Schulz-Passarge syndrome can also lead to bullying or teasing, causing them to suffer from psychological complaints or depression.The nails and teeth are also often negatively affected by this syndrome. On the inner surfaces of the hands, Schöpf-Schulz-Passarge syndrome causes premature and severe keratinization, which can also be associated with pain. Treatment of Schöpf-Schulz-Passarge syndrome usually depends on the extent of the symptoms. The skin complaints can be alleviated with the help of surgical interventions or laser irradiation. Other complaints on the nails or teeth are also removed by a doctor. Complications do not occur in most cases and the course of the disease is positive. The patient’s life expectancy is also not negatively limited by Schöpf-Schulz-Passarge syndrome.
When should you see a doctor?
A doctor should be consulted for Schöpf-Schulz-Passarge syndrome. The syndrome has a very negative effect on the quality of life of the affected person and can significantly reduce it. Therefore, to prevent further complications, a doctor should be consulted as soon as possible. Self-cure cannot occur with Schöpf-Schulz-Passarge syndrome, as it is a hereditary disease. A doctor should be consulted if the affected person suffers from cysts on the eyelids. These appear directly from birth and do not disappear on their own. Similarly, deformities and various malformations in the face of the affected person indicate Schöpf-Schulz-Passarge syndrome, such should always be examined by a doctor. In some cases, the absence of eyelashes or eyebrows also indicates this disease and should then also be examined by a doctor. In the case of Schöpf-Schulz-Passarge syndrome, the general practitioner can be consulted in the first instance. Further treatment is then carried out by the respective specialist. As a rule, Schöpf-Schulz-Passarge syndrome does not reduce the life expectancy of the affected person. Since the disease can also lead to psychological complaints, a psychologist should also be consulted.
Treatment and therapy
Treatment of Schöpf-Schulz-Passarge syndrome currently leaves few options. There is no drug therapy or use of other therapeutic methods for the genetic defect. Therefore, treatment consists of cosmetic removal of the cysts in the facial area or the cornifications in the hand and foot area. Also via cosmetic surgery, in the case of nail dystrophy, correction of the fingernails and toenails can be performed. Depending on the extent of the skin changes, the patient is offered excision or laser irradiation. Excision is a surgical procedure in which the unwanted tissue is removed. The surgical procedure is usually performed with local anesthesia. If laser irradiation is considered, the cysts are removed with a laser in usually several sessions. The emitted radiation of the laser causes the cysts to be carefully detached from the healthy tissue via thermal destruction. In the case of hypotrichosis, the missing hairs can be implanted via a cosmetic procedure if desired. Here, too, several sessions usually have to be scheduled. If the patient suffers from hypodontia, it should be checked whether the gaps between the teeth can be filled with dentures or remedied by means of braces. In most cases, correction of the tooth position by means of an appliance is recommended. In this way, an overall optimization of the tooth misalignment is achieved.
Prevention
Specific preventive measures cannot be taken for Schöpf-Schulz-Passarge syndrome. It is a hereditary disease in which, according to the current state of science, it is unclear whether the mutated gene is even necessarily inherited by the child. The parents could undergo a genetic test in advance and especially if they wish to have a child. This would enable them to determine whether they themselves carry the defective gene. Based on this, they could ask the doctor to tell them how high the probability of inheritance is.
Follow-up
Aftercare for Schöpf-Schulz-Passarge syndrome is first about the final treatment of the medical and cosmetic measures. This is often followed by psychological therapy to reduce the risk of depression. There are still no specific preventive measures for the hereditary disease, but a genetic test provides information about how great the risk of the syndrome would be in a child.Patients affected often suffer from inferiority complexes and have difficulty making social contacts. This is precisely why psychological care following medical therapy is so important. With a trusting relationship with the doctor and loving support from the family, patients feel more comfortable. Often, this trust begins in advance of long-term treatment. To improve the quality of life, it is also worthwhile to attend a self-help group. Contact with other sufferers has a positive effect on one’s own self-confidence and overall mood. In exchanges with people who have the same problem, patients feel accepted and can appear more self-confident. The mental attitude towards the skin disease therefore plays a major role in aftercare. When those affected have come to terms with the disease after a while, their quality of life automatically increases.
What you can do yourself
There are only cosmetic treatment methods for Schöpf-Schulz-Passarge syndrome, but they cannot be integrated into everyday life. Affected individuals often feel inferior and try to avoid social contact. It is very important that patients receive psychological care in order to reduce the risk of depression. Self-treatment is not possible and spontaneous recovery is not to be expected. That is why patients should establish a trusting relationship with their treating physician. As part of long-term therapy, the physician discusses all treatment steps in detail with the patient. The cysts on the face and the cornifications on the extremities are cosmetically removed after intensive consultation. For a better quality of life, those affected should seek out a self-help group. Here there is the possibility to exchange ideas and gain more self-confidence. There is no direct therapy. That is why it is so important to mentally adjust to the hereditary skin disease. People who suffer from it often feel more comfortable when they have come to terms with the problem. The involvement of friends and family members also plays an important role. Even children should be supported in this way to focus on more important things than their appearance.
