Poland syndrome is a complex of inhibitory malformations caused by disorders during embryonic development. The leading symptom is the unilateral lack of attachment of parts of the large pectoral muscle. The laterally different breasts can be aligned in a cosmetic correction.
What is Poland syndrome?
The disease group of congenital malformations contains some malformation syndromes that simultaneously affect the muscular and skeletal systems. One such complex of symptoms is Poland syndrome, which was first described around the middle of the 19th century. The first describer is considered to be the British surgeon Alfred Poland, who bequeathed his name to the syndrome. The symptom complex consists of various malformations that form a complex system. Typically, patients lack a pectoral muscle completely. This leading symptom is associated with malformations of the mammary gland and sclet system. Poland syndrome is included in the so-called inhibition malformations. Its incidence is estimated to be between one case per 10,000 people and one case per 100,000 people. Males are more often affected by the syndrome than females. The malformations are also more often located on the right side of the body than the left. The age of manifestation of the symptoms is the neonatal period.
Causes
A genetic cause is suggested by some research on Poland syndrome. Although most cases of the syndrome appear to be sporadic, familial clustering with autosomal dominant inheritance has been observed in isolated cases. So far, the etiology of the disease has not been conclusively clarified. As a disease from the field of inhibitory malformations, the syndrome probably has its origin in embryonic development.
Symptoms, complaints, and signs
In inhibition malformations, inhibition occurs during the embryonic developmental phase when the upper ray sprouts. This inhibition can vary in severity. The degree of expression determines the clinical picture of the disease. Instead of the upper ray, the lower ray may also be affected by inhibition. However, this phenomenon occurs less frequently than inhibition of the upper ray. After inhibition of the lower ray, malformations of the internal organs often occur. The primary cause of inhibition malformations, and with them the actual cause of Poland syndrome, is not yet known. Some papers assume a vascular cause and hold an interrupted blood supply at the subclavian artery responsible for the inhibition malformations.
Diagnosis and Course of the Disease
The symptom complex of Poland syndrome is lead symptomatically characterized by malformation in the region of the mammary gland and the large pectoral muscle. Thus, the chest area of the affected side appears significantly smaller than the chest of the opposite side. Sometimes patients even completely lack the breast on one side. The nipple is present in almost all cases. In most patients, however, the nipple of the affected side is elevated, 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 fatty tissue. This histological association gives it a firm appearance. The large pectoral muscle can be divided into three parts, with Poland syndrome patients usually lacking the lower parts. Significantly less often, upper parts of the muscle are absent. In addition, some patients lack the small pectoral muscle. Other symptoms depend on the individual case. Conceivable accompanying symptoms are, for example, malformations of the fingers, often in the form of syndactyly. The fingers may also not be formed. For example, the ring finger and the little finger are often not attached. The arms of the patients are sometimes affected by muscle weakness. Additionally, malformations of the thorax may be present, especially thoracic deformities. On the left side, cardiac function may also be disturbed as a result. In some cases, the malformations furthermore affect the organ system and include renal malformations or renal agenesia.
Complications
Due to Poland syndrome, affected individuals suffer from inhibition. In addition to this, it is not uncommon for other malformations and deformities to occur on the patient’s body in the process. The internal organs may also be affected by the malformations in this case, so that the life expectancy of the patient may be limited.Diagnosis of this disease is usually relatively quick and easy, so that direct treatment can also be initiated immediately. The affected person suffers from muscle weakness, so that the performance of sports or ordinary activities is not possible for the patient without further ado. Furthermore, it is not uncommon for deformities to occur in the fingers and feet, which can make the affected person’s everyday life considerably more difficult. The patient’s quality of life is significantly reduced and limited due to Poland syndrome. In some cases, some fingers are even missing completely. Unfortunately, a causal treatment of Poland syndrome is not possible. The affected person is therefore dependent on various therapies or on implants for the rest of his or her life. The affected person may also be dependent on the help of other people in his or her daily life if the deformities make it significantly more difficult.
When should one go to the doctor?
Poland syndrome can be diagnosed based on the malformations in the area of the pectoral muscle and mammary gland at the embryonic stage or immediately after birth. Depending on the severity of the malformations, drug therapy, surgical treatment and other measures are necessary. The pediatrician can develop a treatment plan based on the symptom picture. The child’s parents should follow this plan closely and involve the doctor if there are any accompanying symptoms. If there are any side effects or interactions after taking the prescribed medication, medical advice is also needed. In addition to the pediatrician, a physiotherapist must be involved in the treatment. This can be accompanied by a consultation with a therapist. Parents can also call in an outpatient nursing service or home help. In this way, the child’s treatment can be optimized. Since Poland syndrome usually does not result in further illnesses, only the regular follow-up and routine examinations need to be taken after the initial therapy. Close consultation should be maintained with the pediatrician.
Treatment and therapy
Poland syndrome can only be treated symptomatically, as the cause has not yet been definitively determined. In cases of mild expression, treatment is usually not mandatory. The missing parts of the pectoral muscles can usually be compensated well by other muscles. If this compensation does not occur automatically, patients can undergo physical and occupational therapy to learn how to compensate through specific training. Most patients with Poland syndrome undergo surgical treatment in the course of their lives, mainly because of the cosmetic impairment caused by the side-differentiated breasts and malformations such as syndactylia. The breasts can be resized by breast augmentation on the affected side. In the course of this breast augmentation, an additional reduction of the opposite side can be performed. In some cases, tightening and reduction of the areola are also integrated into the operation. To increase the size of the affected side, patients with Poland syndrome are usually given a silicone implant. Custom-made inlays are also an option. The most natural option is to use the patient’s own skin-fat flaps. Since this allows the breasts to be matched in size, but not structurally or in shape, some doctors recommend amputation and subsequent implant placement 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 patient are ideally satisfied. However, since a double operation is extremely strenuous for the body and not absolutely necessary from a health point of view, Poland syndrome patients should consider this operation carefully in advance. If malformations of the thorax are present and the patients’ cardiac function is impaired as a result, surgical expansion of the thorax is indicated for health reasons.
Prevention
Preventive measures for Poland syndrome do not exist to date. To elicit preventive steps, the cause of the malformations must first be elucidated beyond doubt.
Follow-up
In most cases, the affected person has few or even no special options or measures of aftercare available in Poland syndrome. Since this is a genetic disease, it also cannot be completely cured.As a rule, a genetic examination and counseling should also be carried out in the event of a renewed desire to have children, so that the syndrome cannot reoccur in the descendants. In most cases, this condition can be relatively well alleviated by the measures of physiotherapy or physiotherapy. Special complications do not occur. In this case, the affected person can also repeat many of the exercises at home and thus possibly accelerate the treatment. In many cases, however, surgery is necessary to completely relieve the symptoms of Poland syndrome. After such an operation, the affected person should in any case rest and take care of the body. They should refrain from exertion and physical activities in order not to put unnecessary strain on the body. Furthermore, regular checks and examinations by a doctor are also very important. Poland syndrome does not usually reduce the life expectancy of the affected person.
What you can do yourself
Poland syndrome is a severe deformity that is primarily an aesthetic blemish for those affected. Self-help focuses on avoiding the psychological problems that can occur due to the external changes with the help of a therapist or treating existing psychological suffering. This can also be achieved through trauma therapy or talking to other affected people. People suffering from Poland syndrome often have physical limitations as well. For example, lifting weights can cause problems because the remaining chest muscle does not have the necessary strength. Physiotherapy, yoga and other practices are available to correct this imbalance. Which steps are useful in detail depends on the severity of the deformity. Affected individuals are best advised to speak with their family doctor so that the necessary steps can be taken. Parents who notice a malformation in their child should arrange for surgical measures at an early stage. Nowadays, the missing pectoral muscle can be replaced by an implant. After surgery, it is important to support recovery by eating a healthy diet, taking it easy and following the doctor’s instructions.
