What is Poland Syndrome ?

Poland Syndrome is a congenital deformity described by Alfred Poland in 1841. It is a rare syndrome characterized by the absence of unilateral pectoral (upper chest) muscles, different number of rib defects, breast and nipple anomalies, deficiency of subcutaneous fat, absence of pectoral and armpit (axillary) hair development, and hand anomalies. It occurs in one in 30.000-32.000 births. This disorder occurs 2-3 times more often in males than in females.

Male patient with Poland Syndrome - Before and after treatment

Female patient with Poland Syndrome

Etiology

Its etiology i.e. underlying cause of the disease is unknown. The syndrome generally does not appear to be familial. The reason why patient’s have more than one anomalies with varying degrees is thought to be related to differences in timing of cell death. Findings such as absence of pectoral muscle and limb anomalies are caused by “early mutation” while minor components like skin findings are thought to be resulted from “late mutations. There is also a vascular based hypothesis. According to this hypothesis, during early embryonic period, blood flow through the subclavian artery (brachial artery) or its branches is transiently interrupted. There are cases that were diagnosed with Poland Syndrome where it was showed by angiography that subclavian artery on the affected side was underdeveloped or that this artery had obstruction These cases support vascular cases and it is also meaningful that these cases show that vascular malformations may accompany this syndrome. Some medicines taken during pregnancy have been reported to cause occurrence of the syndrome. In addition, it has been shown that smoking by mother doubles the risk of occurrence of the syndrome.

Signs

Poland syndrome does not limit physical activities of patients. In these patients, discomfort caused by their look is the main reason for their application to a hospital. The main complaint of patients is the the main complaints of the patients are related to the asymmetrical appearance of the body. Therefore, main target of the surgical treatment is to stabilize the chest wall and provide an optimum body appearance. In Poland syndrome, cases, except paradoxical breathing caused by the absence of rib or cartilage, are evaluated only in terms of aesthetics. The syndrome involves one side of the body. An involvement of the right side by 60-75% is also present. There are a few cases that were reported as two-sided Poland syndrome. For these patients suitability of the definition “Poland syndrome” is controversial. Patients rarely experience functional problems. Mostly aesthetic complaints are at the forefront. Hand anomalies accompany the syndrome in 13.5-56% of the patients with Poland syndrome. Shortness or webbing in fingers or occurrence of both at the same time is very often.

Diagnosis

It is possible to diagnose Poland syndrome by a good observation. In addition, physical examination by hand may give an idea about additional anomalies other than affected muscles. Pectoralis major muscle is certainly affected in all patients. In patients with Poland syndrome it has been reported that absence of pectoralis minor muscle is 70-75%. In breast anomalies, smaller nipple compared to the other side and upper localization compared to other breast are noticeable. This condition is present in 30% of female patients. Underdevelopment of the breasts, weakness of the subcutaneous tissue, absence of hair development in the armpit and upper chest axillar could be added to the picture. Less often, absence of nipple and mammary tissue may be seen. First examination of the patients is via direct radiographies. Chest deformities and hand anomalies likely to accompany in patients with this syndrome can be evaluated by direct radiographies. Side of the body where the syndrome is localized can be monitored by direct chest radiography and the tendency of the heart to move towards the healthy side should not be overlooked. Underdeveloped ribs or ribs with deformity may cause a slight pressure on the chest at the side where the syndrome is involved. The most often observed chest deformity in patients with Poland syndrome is the slight flattening of the rib cage. In 11% to 25% of the patients with the syndrome, absence of the anterior part of more than one ribs is observed and serious chest deformity is seen in these patients.

Furthermore, there are several disease accompanying this syndrome and therefore, in order to find out the components of the disease and accompanying other diseases, in addition to direct radiographies, it would be appropriate to perform blood cell count, computed tomography (CT), magnetic resonance imaging (MR), electromyography (EMG), echocardiography and abdominal ultrasonography examinations. CT would also allow planning of the treatment to be applied.

Treatment

Mostly patients have aesthetical concerns. Majority of the treatment demands consists of obtaining the body symmetry. Surgical correction, which is mostly applied in cosmetic problems only, includes making of the most suitable prosthesis for the patient by 3-D imaging and its implantation into the area where muscles are absent. In cases with rib defects, chest wall reconstruction can be performed using grafts prepared from patients own ribs. Treatment consists of different surgical methods or a combination of these methods. Preoperative evaluation is as important as the treatment method to be selected.