What Is Poland Syndrome?

Poland syndrome is a group of syndromes that are rare but include multiple malformations, such as deformities of the chest wall, spine, and upper limbs, also known as pectoralis major muscle defect, phalanx syndrome, and congenital pectoral muscle loss syndrome. This disease is more common in men, accounting for 98%, and most occur on the right side. It is characterized by the absence of large breasts and small muscles, and the absence of ribs. It can be combined with lack of fingers, malformation of short fingers, hypoplasia of carpal bones, funnel chest and spinal deformities, and sometimes absent breasts.

Basic Information

nickname: Pectoralis major muscle defect
Visiting department: General Surgery
Common causes: May be due to fetal breast muscle bud abnormal development.

Common symptoms: Defects of chest muscle defects, short forearms or associated finger deformities and loss of phalanges.
Contagious: no

Causes of Poland syndrome

The cause of Poland syndrome is unknown. May be due to fetal breast muscle bud abnormal development. Early in the embryo, the upper limb buds differentiate into clavicle and pectoral muscles, which gradually approach and attach to the ribs and sternum. When the pectoral muscle buds develop abnormally and cannot heal with the sternum and ribs, the free pectoral muscles are reabsorbed and disappear. At the same time, the bones without pectoral muscles degenerate and become deficient.

Clinical manifestations of Poland syndrome

1. Defects of the chest muscles and deformities of the pectoralis major muscle are the most basic manifestations. Some are also accompanied by a lack of certain muscle groups on one side of the chest and back such as the pectoralis minor or latissimus dorsi.
2. Short scapula dysplasia in the upper extremity band, short forearm or accompanied by deformities and lack of phalanges.
3. Bone tissue deformity A small part of ribs or costal cartilage defects, in severe cases may have abnormal breathing of the thorax.
4. Dysplasia (1) Dysplasia of the skin and subcutaneous tissues on the lesion side, weak tissues, and loss of axillary hair.
(2) Breast tissue is dysplastic, with little or no breast tissue. Small nipples, small areolas, and sometimes nipples are missing, showing only red dot-like epithelial protrusions.

Poland syndrome test

1. CT, MRI examination can clearly show and locate the degree of breast or chest wall and muscle and ipsilateral upper limb defects or deformities, and can be compared with the normal side. In particular, the three-dimensional imaging system can provide a basis for selecting a suitable treatment plan.
2. X-ray of the chest X-ray of the chest showed that the thorax was translucent, the shadow of the breast disappeared, and the ribs were missing. Patients with a funnel chest have typical changes in the ribs of the funnel chest.

Diagnosis of Poland syndrome

1. Clinical manifestations According to the characteristics of chest wall deformities, especially when there are hand deformities, the diagnosis is not difficult.
2. Auxiliary examination X-ray examination showed a translucent chest, rib defects, and breast shadow disappeared. CT and MRI show more clearly the degree of defects and deformities, which can help diagnosis.

Poland syndrome treatment

Poland syndrome has abnormal breathing due to chest wall defects, which obviously affects cardiopulmonary function. In addition, patients with chest wall deformities can secondary to neuropsychiatric symptoms, so they should be actively treated, preferably before adulthood. Patients with combined finger deformities can be staged with chest wall surgery. It is important to determine the degree of deformity of the chest muscles and bones for the formulation of a surgical plan.
1. If the deformity is limited to the sternum attachment of the pectoralis major and pectoralis minor, and the function is lightly impaired, no surgery is necessary.
2. Thoracic bone defects such as feasible repair of chest wall defects can be repaired with autologous bone.
3. Symphysis funnel chest or costal cartilage deficiency can be corrected by sternal turnover and muscle flap transplantation.
4. Pectoralis major muscle deficiency can be covered with latissimus dorsi muscle flaps with blood vessels and nerve pedicles, which can be covered and repaired through the axillary forward chest wall transplantation. In the absence of breasts, adult women can perform various types of breast reconstruction.

Prognosis of Poland syndrome

The prognosis of Poland syndrome is good, but the orthopedic effect depends on the degree of deformity. Proper surgical treatment can obtain a better thoracic shape. However, severe malformations often have extensive soft tissue dysplasia, and the implanted ribs are easily absorbed, which may recur after surgery and even require multiple surgeries.