Poland Syndrome

The Poland Syndrome is a complex of inhibitory malformations caused by disorders during embryonic development. The main symptom is the unilateral lack of application of parts of the large pectoral muscle. The breasts on different sides can be adjusted to one another in a cosmetic correction.

What is Poland Syndrome?

The symptom complex of Poland syndrome is characterized by malformations in the area of ​​the mammary gland and the large pectoral muscle. The chest area on the affected side appears significantly smaller than the chest on the opposite side.
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The group of congenital malformations contains some malformation syndromes that affect both the muscular and skeletal systems. Such a complex of symptoms is that Poland Syndrome, which was first described in the middle of the 19th century. The British surgeon Alfred Poland, who bequeathed his name to the syndrome, is considered to be the first to describe it.

The symptom complex consists of various malformations that form a complex system. Typically, patients completely lack a pectoral muscle. This leading symptom is associated with malformations of the mammary gland and the velcro system. Poland syndrome is one of the so-called inhibition malformations.

Its incidence is estimated to be between one case in 10,000 people and one case in 100,000 people. Men are more likely to have the syndrome than women. The malformations are also more often on the right side than the left. The age of onset of symptoms is the newborn age.

causes

Some research on Poland Syndrome suggests a genetic cause. Most cases of the syndrome apparently occurred sporadically, but in individual cases familial clusters with an autosomal dominant inheritance pattern could be observed. The etiology of the disease has not yet been conclusively clarified. As a disease from the area of ​​inhibitory malformations, the syndrome probably has its origin in embryonic development.

Symptoms, ailments & signs

In the case of inhibition malformations, an inhibition occurs during the embryonic development phase when the upper ray sprouts. This inhibition can be different. The severity determines the clinical picture of the disease. Instead of the upper steel, the lower beam can also be affected by an inhibition. However, this phenomenon is less common than the inhibition of the upper ray.

After the lower beam is blocked, malformations of the internal organs often occur. The primary cause of inhibition malformations and with them also the actual cause of Poland syndrome is not yet known. Some papers assume a vascular cause and blame an interrupted blood supply to the subclavian artery for the inhibition malformations.

Diagnosis & course of disease

The symptom complex of Poland syndrome is characterized by malformations in the area of ​​the mammary gland and the large pectoral muscle. The chest area on the affected side appears significantly smaller than the chest on the opposite side. Sometimes patients even completely lack the breast on one side. The nipple is created in almost all cases.

In most patients, however, the nipple on the affected side is raised, has a smaller areola, and is both smaller and darker than that of the opposite side. The affected side of the breast contains a lot of connective tissue and little fat tissue. This histological relationship gives it a solid appearance. The pectoralis major can be divided into three parts, with Poland syndrome patients mostly missing the lower parts.

Much less often the upper parts of the muscle are not created. In addition, some patients lack the small pectoral muscle. The other symptoms depend on the individual case. Concomitant symptoms are, for example, malformations of the fingers, often in the form of syndactyly. Failure of the fingers to be positioned can also occur. For example, the ring finger and little finger are often not applied. The patient's arms are sometimes affected by muscle weakness.

In addition, there may be malformations of the thorax, particularly chest reductions. The heart function on the left side can also be disturbed as a result. Some of the malformations also affect the organ system and include kidney malformations or renal agenesis.

Complications

Because of Poland syndrome, those affected suffer from an inhibition. In addition to this, other malformations and malformations on the patient's body are not uncommon. The internal organs can also be affected by the malformations, so that the life expectancy of the patient may be limited.

The diagnosis of this disease is usually relatively quick and easy, so that direct treatment can be initiated immediately. Those affected suffer from muscle weakness, so that it is not easy for the patient to participate in sports or ordinary activities. Furthermore, malformations often occur on the fingers and feet, which can make the everyday life of the person affected considerably more difficult.

The quality of life of the patient is significantly reduced and restricted due to Poland syndrome. In some cases, some fingers are also completely absent. A causal treatment of Poland syndrome is unfortunately not possible. Those affected are therefore dependent on various therapies or implants throughout their lives. The person affected may also need the help of other people in their everyday life if the malformations make them significantly more difficult.

When should you go to the doctor?

Poland syndrome can be diagnosed in the embryonic stage or immediately after birth based on malformations in the breast muscle and mammary gland. Depending on the severity of the malformations, drug therapy, surgical treatment and other measures are necessary. The pediatrician can use the symptom picture to create a treatment plan. The child's parents should adhere closely to this plan and consult a doctor if any side effects occur. If there are side effects or interactions after taking the prescribed medication, medical advice is also required.

In addition to the pediatrician, a physiotherapist must be involved in the treatment. You can also talk to a therapist. Parents can also call in an outpatient care service or domestic help. In this way, the treatment of the child can be optimally designed. Since Poland syndrome usually does not result in any further illnesses, only regular follow-up and routine examinations need to be taken after the initial therapy. Close consultation should be held with the pediatrician.

Treatment & Therapy

Poland syndrome can only be treated symptomatically, as the cause has not yet been definitively clarified. In cases of low severity, treatment is usually not absolutely necessary. The missing pectoral muscle parts can usually be compensated for by other muscles.

If this compensation does not take place automatically, the patients can go into physiotherapy and occupational therapy and learn how to compensate through targeted training.Most patients with Poland syndrome seek surgical treatment in the course of their life mainly because of the cosmetic impairment caused by the lateral breasts and malformations such as syndactylia.

The breasts can be sized to match one another by augmenting the breast on the affected side. As part of this breast augmentation, the opposite side can also be reduced in size. In some cases, tightening and reducing the size of the areola are also integrated into the operation. A silicone implant is usually placed in patients with Poland Syndrome to enlarge the affected side.

Custom-made inlays are also possible. The most natural option is the use of the body's own skin-fat flaps. Since the breasts can be adjusted to one another in terms of size, but not structurally or in terms of shape, some doctors recommend amputation and subsequent implantation for the breast on the opposite side. In this way, the two sides of the breast look the same with lasting success and the cosmetic demands of the patients are ideally satisfied.

However, since a double operation is extremely stressful for the body and not absolutely necessary from a health point of view, patients with Poland Syndrome should think about this operation well in advance. If there are malformations of the thorax and the patient's heart function is impaired, surgical dilatation of the thorax is indicated for health reasons.

prevention

So far there are no preventive measures for Poland Syndrome. In order to determine preventive steps, the cause of the malformation must first be clarified without a doubt.

Aftercare

In most cases of Poland syndrome, those affected have few or even no special follow-up options or measures. Since this disease is a genetic disease that cannot be completely cured. As a rule, genetic testing and counseling should also be carried out if you want to have children again, so that the syndrome cannot recur in the descendants.

In most cases this disease can be alleviated relatively well by the measures of physiotherapy or physiotherapy. There are no particular complications. The affected person can repeat many of the exercises at home and thus possibly accelerate the treatment.

In many cases, however, surgery is necessary to completely alleviate the symptoms of Poland Syndrome. After such an operation, those affected should definitely rest and take care of their bodies. You should refrain from exertion and physical activity in order not to unnecessarily burden the body. Regular checks and examinations by a doctor are also very important. Poland syndrome does not usually reduce the life expectancy of those affected.

You can do that yourself

Poland syndrome is a serious malformation that is primarily an aesthetic flaw for those affected. Self-help concentrates on avoiding psychological problems that may arise due to external changes with the help of a therapist or on treating existing psychological ailments. This can also be achieved through trauma therapy or talking to other people affected.

People who suffer from Poland Syndrome often have physical limitations as well. Lifting loads can lead to problems because the remaining chest muscle does not have the necessary strength. Physiotherapy, yoga, and other practices can be used to compensate for this imbalance. Which steps make sense in detail depends on the severity of the malformation. Affected persons are best to speak to their family doctor so that the necessary steps can be taken.

Parents who notice a malformation in their child should initiate surgical measures at an early stage. Nowadays the missing chest muscle can be replaced with an implant. After an operation, it is important to support recovery through a healthy diet, protection and compliance with medical guidelines.