Characterized by the atrophy or even the absence of the pectoralis major muscle on one side of the thorax, whether or not associated with various malformations and dysfunctions of the hand, arm and internal organs, Poland syndrome is a rare congenital disease. Surgery helps limit the disability caused by malformations.

Definition

Poland syndrome is a rare congenital disease that results in various developmental abnormalities affecting the thorax and upper limb on one side of the body only, three out of four times on the right side. Atrophy of the pectoralis major – the largest thoracic muscle – is characteristic of the disease, which may be absent altogether. The thorax is asymmetrical, with a very distinct hollow on the affected side, associated in women with the absence of a breast.

Causes

The origin of the disease is unknown. It could result from poor vascularization during intrauterine life, leading to abnormal development of the embryo. 

Diagnostic

Prenatal ultrasounds do not always detect Poland syndrome. At birth, the malformations then constitute a shock for the parents.

The diagnosis is based on the clinical assessment and imaging examinations:

• x-ray of the chest and spine as well as the two upper limbs,
• computed tomography,
• IRM,
• Abdominal ultrasound…

This assessment makes it possible to verify the absence of neurological damage and higher functions and to assess the extent of the malformations.

In the milder forms, asymmetry of the thorax may go unnoticed at birth. The diagnosis is then later.

Risk factors

A few very rare cases of genetically transmitted familial forms have been described. However, the birth of a second child with the same syndrome is exceptional (recurrence in siblings estimated at 1%) and the risk for the offspring of affected people is also very low.

The people concerned

Poland syndrome is a rare, male-dominated birth defect. It concerns one birth in 30 to 000, or about twenty births per year in France. Boys would be twice as affected as girls.

Deformities of varying extent

Thoracic abnormalities can affect muscle tissue, bone, cartilage … The extent and severity of malformations vary from one individual to another.

Abnormalities of the upper limb may be associated with involvement of the pectoralis major:

• absence or incomplete development of other muscles in the shoulder
• arm on the affected side thinner and shorter
• shorter hand (brachydactyly)
• webbed fingers, fusion of two or more fingers (syndactilies).

More rarely, we also observe:

• an abnormal diaphragm
• an abnormal position of the heart (dextrocardia: heart on the right)
• the absence of one or more ribs resulting in abnormal breathing movements
• abnormalities of the digestive system (small intestine, colon, liver, gallbladder)
• insufficient development of one or both kidneys
• endocrine disorders.

A disease difficult to accept, more or less disabling

In the most frequent forms, the functional disorders are minor. However, thoracic asymmetry and, in women, breast atrophy and nipple abnormalities characteristic of the disease, are difficult to accept. In adolescence, the impact on self-image can be significant and generate a lack of self-confidence, social withdrawal, refusal to practice sport …

The most frequent functional disabilities are linked to damage to the upper limb, in particular to deformities of the hand causing difficulties on a daily basis. Patients with the most severe forms of the disease may also present with respiratory, digestive, renal or endocrine disorders, as well as a predisposition to develop cancers such as lymphomas or acute leukemias.

The birth of a child with Poland syndrome requires pediatric, surgical and psychological support.

Reconstructive surgery

Surgery is indicated for the reconstruction of malformations. Hand surgery begins at the age of 6 to 12 months. It is generally possible to separate the fused fingers of a “webbed” hand, unless the deformities of the fingers are very severe. Even if this hand remains smaller than the other, it will grow in the same proportions and its function will be almost normal.

Thanks to advances in surgical techniques, some more severe deformities of the fingers can now be corrected by grafting a toe phalanx.

Abnormalities of the ribs are the cause of abnormal respiratory movements (inspiratory depression). However, this phenomenon decreases with age and surgical reconstruction is rarely necessary. On the other hand, a follow-up must be ensured to detect and treat if necessary a possible scoliosis.

Plastic surgery

Cosmetic surgery procedures take place after the growth has stopped. They aim to reconstruct a breast and / or the pectoral muscle in order to restore their volume and restore symmetry. By allowing adolescents to get rid of their complexes, they help them to accept or even forget their illness and greatly improve their quality of life.

Implants specific to each patient are used, made more and more often from a 3D scanner thanks to computer-aided construction (CAD), in medical-grade rubber or silicone elastomer, without risk of rejection. Complementary adipose tissue grafting may be considered to improve the outcome.

Psychological support

Finally, psychological support for the child should not be neglected. They should be encouraged to overcome their disability and to engage in social activities. The example of personalities like the former boxer Jérôme Thomas, silver medalist at the Olympic Games in Athens, shows that the practice of sport is quite possible. Beneficial for improving posture and posture, it can also help them develop their self-confidence.