Schöpf -Schulz-Passarge syndrome is a skin disease. It is very rare and is a hereditary disease. The symptoms occur in the patients mainly in the head and face area.
What is Schöpf-Schulz-Passarge Syndrome?
The Schöpf-Schulz-Passarge syndrome was named after its discoverers. The German physicians and dermatologists Erwin Schöpf, Hans-Jürgen Schulz and Eberhard Passarge first reported on this very rare disease in 1971. The syndrome is a skin disease caused by a genetic defect. See beautyphoon for What is Lichen Planus.
The hereditary disease primarily causes benign tumors and cysts on the face. Furthermore, disorders of the dental buds and body hair are part of the appearance of the Schöpf-Schulz-Passarge syndrome. Most often, the skin changes appear on the eyelids of the patients. Calluses can also form on the hands or feet.
The affected regions are in particular the palms of the hands and the soles of the feet. The Schöpf-Schulz-Passarge syndrome is diagnosed with a frequency of less than 1:1 million. This makes it a very rare disease that appears shortly after birth, in childhood or in adolescence.
Causes
The cause of the Schöpf-Schulz-Passarge syndrome is an inherited genetic defect. Mutation of the WNT10A gene leads to various symptoms and ultimately to the diagnosis of the disease. The WNT genes are important at the stage of embryo development. The change in the gene is passed on from the parents to their child in an autosomal recessive manner.
As a result, the genetic defect is not necessarily passed on to the children. The onset of the disease is automatically prevented if a dominant allele prevails over a recessive allele during the development phase of the embryo. It is unclear whether the gene defect is also inherited in an autosomal dominant manner. According to the current state of science, this has not yet been conclusively clarified.
Symptoms, Ailments & Signs
Patients with Schöpf-Schulz-Passarge syndrome have cysts on the eyelids. These are usually described as being cylindrical and referred to as apocrine gland cysts. Patients develop benign tissue growths called hidrocytomas.
Schöpf-Schulz-Passarge syndrome causes enlarged capillary vessels in the skin in the middle of the face. In what is known as telangiectatic rosacea, there is irreversible vasodilatation that is easy to see with the naked eye. Other symptoms of the syndrome include hypotrichosis as well as hypodontia.
Hyptrichosis is understood to mean a reduced number of hairs in the patient. Schöpf-Schulz-Passarge syndrome can also lead to a lack of eyelash and eyebrow hair. Hypodontia is a minority of teeth in the patient. This can involve one or more teeth that are generally not present in the patient.
In individual cases, the Schöpf-Schulz-Passarge syndrome leads to nail dystrophy. These are growth disorders on the fingernails or toenails. Patients are also diagnosed with palmoplantar keratosis as they age. These are places of cornification on the palms of the hands and on the soles of the feet.
Diagnosis & course of disease
Most of the symptoms of Schöpf-Schulz-Passarge syndrome are usually evident shortly after birth or in the first few weeks of life. After a period of observation and various tests are carried out. The syndrome is finally diagnosed via a genetic test.
Since some symptoms, such as missing teeth and cornifications on the hands and feet, only become apparent in the first few years of life, the patients will show further signs as the disease progresses.
Complications
First and foremost, those affected by Schöpf-Schulz-Passarge syndrome suffer from serious skin problems. These occur mainly on the face and can have a very negative effect on the aesthetics and thus also on the quality of life of those affected. In many cases, patients feel uncomfortable because of the symptoms and may also suffer from inferiority complexes or significantly reduced self-esteem.
Schöpf-Schulz-Passarge syndrome can also lead to bullying or teasing in children or young people, so that they develop mental health problems or depression. The nails and teeth are also often negatively affected by this syndrome. The Schöpf-Schulz-Passarge syndrome causes early and severe cornification on the inner surfaces of the hands, which can also be associated with pain.
The 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 radiation. Other problems with the nails or teeth are also removed by a doctor. Complications do not occur in most cases and the disease progresses positively. The life expectancy of the patient is not negatively restricted by the Schöpf-Schulz-Passarge syndrome.
When should you go to the doctor?
If you have Schöpf-Schulz-Passarge syndrome, you should see a doctor. The syndrome has a very negative effect on the quality of life of those affected and can significantly reduce it. In order to prevent further complications, a doctor should be consulted as soon as possible. Self-healing cannot occur with Schöpf-Schulz-Passarge syndrome because it is a hereditary disease. A doctor should be consulted if the person concerned suffers from cysts on the eyelids. These appear right from birth and do not go away on their own.
Deformations and various malformations on the face of the affected person also indicate the Schöpf-Schulz-Passarge syndrome, and such should always be examined by a doctor. In some cases, the absence of eyelashes or eyebrows indicates this disease and should then also be examined by a doctor.
In the case of the Schöpf-Schulz-Passarge syndrome, the family doctor can be consulted in the first place. 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 person affected. Since the disease can also lead to psychological problems, a psychologist should also be consulted.
Treatment & Therapy
The treatment of the Schöpf-Schulz-Passarge syndrome currently leaves few options. There is no drug therapy or the use of other therapeutic methods for the genetic defect. The treatment therefore consists in the cosmetic removal of the cysts in the face area or the calluses in the hand and foot area.
In the case of nail dystrophy, a correction of the fingernails and toenails can also be carried out via a cosmetic procedure. Depending on the extent of the skin changes, the patient is offered an excision or laser irradiation. Excision is a surgical procedure that removes unwanted tissue.
The surgical intervention is usually performed with a local anesthetic. If laser irradiation is considered, the cysts are usually removed with a laser in several sessions. The radiation emitted by the laser causes the cysts to be carefully detached from the healthy tissue via thermal destruction.
In the case of hypotrichosis, the missing hair can be implanted via a cosmetic procedure if desired. Here, too, several meetings are usually to be scheduled. If the patient suffers from hypodontia, it should be checked whether the tooth gaps can be filled with a denture or whether a remedy can be provided by means of braces. In most cases, correction of the tooth position using an appliance is recommended. In this way, an overall optimization of the tooth misalignment is achieved.
Prevention
Concrete preventive measures cannot be taken with the Schöpf-Schulz-Passarge syndrome. It is a hereditary disease in which, based on the current state of science, it is unclear whether the mutated gene is necessarily inherited by the child at all. The parents could undergo a genetic test in advance, especially if they wish to have children.
They can use this to determine whether they themselves carry the defective gene. In conclusion, they could get information from the doctor about how high the probability of inheritance is.
Aftercare
The aftercare of the Schöpf-Schulz-Passarge syndrome is initially about the final treatment of the medical and cosmetic measures. This is often followed by psychological therapy, which aims to reduce the risk of depression. There are no specific preventive measures for the hereditary disease, but a genetic test can provide information about the risk of the syndrome in a child.
Affected patients often suffer from inferiority complexes and have difficulty making social contacts. This is exactly why psychological support after medical therapy is so important. With a trusting relationship with the doctor and loving support from the family, patients feel more comfortable. This trust often begins in the run-up to long-term treatment.
To improve the quality of life, it is also worth visiting a self-help group. Contact with other affected people has a positive effect on your own self-confidence and overall mood. In exchange with people who have the same problem, the patients feel accepted and can appear more self-confident. The mental attitude towards the skin disease therefore plays a major role in aftercare. After a while, when those affected have come to terms with the disease, their quality of life automatically improves.
You can do that yourself
There are only cosmetic treatment methods for the Schöpf-Schulz-Passarge syndrome, which cannot be integrated into everyday life. Those affected often feel inferior and try to avoid social contacts. It is very important that patients receive psychological support to reduce the risk of depression.
Self-treatment is not possible and spontaneous healing is not to be expected. Therefore, patients should establish a trusting relationship with their treating physician. As part of the long-term therapy, the doctor 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 look for a self-help group. Here you have the opportunity to exchange ideas and gain more self-confidence. There is no direct therapy. That is why it is so important to prepare yourself mentally for the hereditary skin disease. The people who suffer from it often feel better when they come to terms with the problem. The involvement of friends and family members also plays an important role in this. Even children should be supported in this way to concentrate on more important things than their appearance.
