Poland syndrome is a complex of malformations, including the absence of a small and / or large pectoral muscle, a decrease in the thickness of the layer of subcutaneous fat in the chest area, the absence or deformation of several ribs, the absence of a nipple or breast, shortening of fingers, complete or incomplete fusion of fingers, as well as the absence of hair in the armpit. The defect is one-sided, more often observed on the right. The severity of violations can vary greatly. The diagnosis is made on the basis of clinical data, radiography, MRI and other studies. Treatment is usually surgical – thoracoplasty, correction of the defect with grafts, cosmetic interventions.
Q79.8 Other malformations of the musculoskeletal system
Poland syndrome is a fairly rare congenital malformation. It is detected in one of 30-32 thousand newborns. For the first time partial descriptions of this pathology were made by Frorier and Lallemand in the first half of the 19th century, but the disease was named after the English medical student Poland, who also created a partial description of the defect in 1841. Occurs sporadically, family predisposition has not been proven. It is characterized by wide variability – in different patients there are significant differences both in severity and in the presence or absence of certain defects.
Poland syndrome causes
Specialists in the field of thoracic surgery, traumatology and orthopedics suggest that the cause of this anomaly is a violation of the migration of embryonic tissues from which the pectoral muscles are formed. There are also theories linking Poland’s syndrome with intrauterine injuries or hypoplasia of the subclavian artery. None of these theories has yet received reliable confirmation.
The main and most permanent component of this complex of malformations is hypoplasia or aplasia of the pectoral muscles, which can be supplemented by other signs. Slight underdevelopment or absence of rib cartilage is possible. In some cases, on the side of the lesion, not only muscles, fatty tissue and rib cartilage are completely absent, but also the bone part of the ribs. Other possible signs of Poland syndrome include brachydactyly (shortening of fingers) and syndactyly (fusion of fingers) on the affected side. Sometimes there is a decrease in the size of the brush or its complete absence.
On the defective side, the absence of a breast (amastia), the absence of a nipple (atelia) and the absence of hair in the armpit can also be detected. In 80% of cases, the complex of defects is detected on the right side. In the left–sided variant of the Poland syndrome, the reverse arrangement of internal organs is sometimes found – from dextracardia, in which the heart is on the right, and the other organs remain in their place, to a mirror arrangement, in which the reverse (mirror) localization of all organs is observed.
With the left-sided variant of the disease, the normal location of the heart and pronounced hypoplasia of half of the chest, the heart remains poorly protected from external influences and can sometimes be located directly under the skin. In such cases, there is an immediate danger to the patient’s life, since any blow can cause serious injury and cardiac arrest. In other cases, the consequences are not so serious and can range from deterioration of respiratory and circulatory functions due to deformation of the chest to a purely cosmetic defect due to the absence of muscles and / or breast.
Poland syndrome symptoms
The symptoms of Poland syndrome are usually clearly visible even to a layman and are usually detected by parents in the first days of the baby’s life. The asymmetry of the chest, the absence or insufficient development of muscles and underdevelopment of subcutaneous fat on the one hand is characteristic. If the defect is located on the side of the heart, in the absence of ribs, you can observe the heartbeat right under the skin. In girls during puberty, the breast on the diseased side does not grow or lags behind in growth. In some cases (with muscle hypoplasia in the absence of other defects), Poland syndrome is diagnosed in boys only in adolescence, when after sports, patients turn to a doctor because of the asymmetry that has arisen between the “pumped up” normal and hypoplasized pectoral muscles.
There are four main options for the formation of the chest in Poland syndrome. In the first variant (observed in most patients), the structure of the cartilaginous and bony part of the ribs is not broken, the shape of the chest is preserved, the anomaly is detected only at the level of soft tissues. In the second variant, the bone and cartilaginous part of the ribs are preserved, but the chest has an irregular shape: on the side of the lesion there is a pronounced sinking of the cartilaginous part of the ribs, the sternum is rotated (deployed half-side), on the opposite side a keeled deformity of the chest is often detected.
The third variant is characterized by hypoplasia of the costal cartilages with the preservation of the bony part of the ribs. The chest is somewhat “skewed”, the sternum is slightly tilted to the sick side, but there is no gross deformation. In the fourth variant, the absence of both cartilaginous and bony parts of one, two, three or four ribs (from the third to the sixth) is detected. The ribs on the affected side sink, pronounced rotation of the sternum is revealed.
To confirm the diagnosis and determine the tactics of treatment of Poland syndrome, a number of instrumental studies are carried out. On the basis of chest x-ray, the severity and nature of pathological changes in bone structures are judged. To assess the condition of cartilage and soft tissues, the patient is referred for an MRI and CT scan of the chest. If secondary pathological changes in internal organs are suspected, consultations of a cardiologist and a pulmonologist are prescribed, the function of external respiration, ECG, EchoEG and other studies are carried out.
Poland syndrome treatment
Surgical treatment, usually begins at an early age, is carried out by plastic and thoracic surgeons. The volume of therapeutic measures depends on the presence and severity of certain pathological changes. Thus, in case of gross pathology with the absence of ribs and deformity of the chest, a number of step-by-step surgical interventions may be required to ensure the safety of internal organs and the normalization of external respiration. And with the isolated absence of the pectoral muscle and the normal shape of the chest, the sole purpose of the operation is to eliminate the cosmetic defect.
If necessary, to correct the anomalies of the hand (for example, to eliminate syndactyly), traumatologists and orthopedists are involved. In the presence of pathology from the internal organs, patients are referred to cardiologists and pulmonologists. The aim of the treatment of the underlying pathology is to create optimal conditions for the protection and functioning of internal organs, restore the normal shape of the chest and restore normal anatomical relationships between soft tissues.
The first and main part of the treatment of Poland’s syndrome is the elimination of bone deformity and the replacement of a rib defect. Several methods of thoracoplasty are used. With the right-sided localization of the defect and the absence of two or three ribs, the transposition of the underlying ribs is carried out. When four ribs are affected, a musculoskeletal flap is transplanted, “cut out” from the healthy half of the patient’s chest. If necessary, a corrective wedge-shaped sternotomy is performed (removal of a section of the sternum to correct its shape and position from oblique to straight).
Currently, along with the use of the patient’s own tissues, surgical interventions are increasingly performed using implants made of special inert synthetic materials. In some cases, at preschool age, a special mesh is installed in the area of the rib defect, which protects the internal organs without interfering with the normal growth of the ribs – this tactic reduces the likelihood of secondary chest deformities caused by uneven growth of the operated and non-operated ribs of the patient.
In case of isolated muscle defects, the anterior dentate muscle or rectus abdominis muscle is transplanted. It is also possible to replace the pectoral muscles with an individually made silicone graft. In women, reconstructive mammoplasty becomes an important part of treatment – the elimination of a cosmetic defect that has arisen due to underdevelopment or absence of the breast. To restore the anatomical relationships between soft tissues, the movement of the widest back muscle is used, and after some time after the wound is healed, a silicone breast prosthesis is installed.
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