What is Poland Syndrome in Children?

In 1841, a British scientist named Alfred Poland found a unique birth defect related to the chest muscles that would later be known as Poland syndrome. This condition often shows up as one-sided underdevelopment or complete absence of chest wall muscles, visible from birth. This muscle deficiency usually comes with abnormalities in the hand or upper arm on the same side. In some cases, it can also affect both sides of the chest muscles, although this is rare.

There are suggestions that Poland syndrome might be paired with abnormalities in blood vessels, bones, and internal organs. The way Poland syndrome appears can vary greatly between individuals making it sometimes tough to identify.

What Causes Poland Syndrome in Children?

There’s disagreement about what causes Poland syndrome, a disorder that usually occurs by chance. However, there are three primary theories: it could be genetic, caused by harmful (teratogenic) effects during fetal development, or due to issues with the blood supply (vascular compromise) when the fetus is developing.

Some evidence supports the genetic theory; there are cases where distant relatives also develop Poland syndrome. Another theory suggests it could be due to harmful effects on a developing baby due to environmental factors or certain medications. Research found higher rates of Poland syndrome among pregnant women who smoked compared to those who did not during the baby’s development.

Some studies link Poland syndrome to medication-induced abortions that didn’t work as intended. Another theory suggests it might be due to a poor blood supply while a baby is developing in the womb. This is usually seen as underdevelopment of certain blood vessels (hypoplasia) in people with Poland syndrome, suggesting poor development of the limb bud, the embryonic structure that develops into the limb. Many factors could cause this, such as amniotic bands (strands of amniotic fluid that can entangle parts of the fetus), tumors, swelling, or misplaced muscle during the sixth and seventh weeks of a baby’s development.

Risk Factors and Frequency for Poland Syndrome in Children

Poland syndrome, a condition affecting live births, varies in occurrence, ranging from 1 in 10,000 to 1 in 100,000 cases. This syndrome affects males three times more frequently than females, and cases of right-sided abnormalities are typically twice as common as left-sided ones. It’s important to note that most instances of Poland syndrome occur randomly with only a few resultant cases from familial genetics.

The condition is often seen in males more than females, with a ratio of 3:1.
The cases reported mostly involve right-sided abnormalities, which are two times more usual than those on the left side.
Despite its irregular occurrence, some cases are familial, meaning it can be passed down through family genes.
It is also worth mentioning that mild forms of the syndrome are more common than severe ones. This could mean many mild cases go unreported or undiagnosed and might make the total number of cases seem lower than it truly is.

Signs and Symptoms of Poland Syndrome in Children

Poland syndrome is a condition where a person has certain abnormalities, like underdeveloped muscles on one side of the body and short, webbed fingers on the hand of the same side. Those with this condition generally notice the physical differences and may come forward with concerns about the asymmetry of their chest. Kids often come to attention due to differences in their fingers or hands, with the uneven appearance of their chest becoming more noticeable as they get older. In rare cases, severe forms of Poland syndrome can cause bent spine (scoliosis), deformities in the ribs and sternum (bone in the middle of the chest), and difficulties with the lungs and heart leading to shortness of breath or trouble taking deep breaths.

An examination for Poland syndrome starts with looking at the front of the chest for any unevenness. The condition can show itself in many ways, but typically it’s identified by the lack of a muscle (pectoralis major) that is usually attached to the sternum (chest bone) and ribs. There might also be an absence of other muscles and some ribs. Presence or absence of a muscle (latissimus dorsi) is really crucial when deciding on surgical treatment. The chest bone and ribs might look twisted or underdeveloped. On the same side of these differences, the nipple area might be missing or underdeveloped, and there might be deformities with the hand.

The patient might also have a type of scoliosis and defects in the front wall of the chest such as an inward chest wall (pectus excavatum). A visual look and feeling of the chest wall are critical parts of the physical exam to identify muscle issues and bone deformities. The soft tissue on the affected side is often thinner, and might have less hair growth. It’s also crucial to have a good look at the armpit and back. Listening to the heart and lungs is an extremely important part of the exam, especially to rule out a condition called “dextrocardia”, which is a rare form of Poland syndrome seen mainly when the left side is involved.

Testing for Poland Syndrome in Children

Poland syndrome is a condition that can vary significantly from person to person. However, the one constant feature in all cases is a deficiency of the chest muscles.

Treatment Options for Poland Syndrome in Children

If a person has Poland syndrome, which involves the underdevelopment or absence of the chest muscle, and sometimes the hand, on one side of the body, different types of surgery can be used to improve their appearance and function. The best option depends on several factors like the person’s age, gender, and the severity of their syndrome.

In females with Poland syndrome, one common treatment is breast reconstruction using a silicone implant, which is usually done after they turn 18. For those with more severe forms of Poland syndrome, doctors may use a procedure called a latissimus flap (which involves moving muscle from the back to the chest), along with a breast implant. Syndactyly, a condition where fingers are fused together that can be a part of Poland syndrome, is usually treated with surgery during early childhood.

In males with Poland syndrome, one common treatment method is fat grafting. This is when fat is taken from another part of the body and moved to the chest area to make up for the missing muscle and restore balance to the chest’s appearance. This approach is often used to correct mild to moderate chest wall asymmetry. In severe cases, doctors may need to remove fat (lipo-aspiration) or breast tissue from the other side of the chest to restore balance. In other cases, chest wall reconstruction might be required, and grafts from the person’s body (autologous) or outside sources (alloplastic) might be used. The latissimus dorsi, a muscle in the back, is often used for these grafts, but muscles from the other side of the chest can be used if the latissimus dorsi isn’t available.

Bone grafts or prosthesis, which are replacement body parts, can also be used to reconstruct the chest wall, sometimes alongside a muscle flap. Today, most breast and chest wall reconstructions are accomplished with a single surgery instead of the two-step process that involved initial placement of tissue expanders. There are even custom-made silicone implants that are designed with the help of 3D computer technology to fit the patient’s specific needs.

When diagnosing Poland syndrome, there could be other conditions with similar features doctors need to rule out. These include:

Simple breast asymmetry
Amazone syndrome
Congenital thoracic anomalies (birth defects involving the chest area)
Congenital upper limb anomalies (birth defects involving the arms)
Congenital breast anomalies (birth defects involving the breasts)
Swyer-James syndrome

What to expect with Poland Syndrome in Children

Research has found that some cancers, like leukemia and hypoplastic breast carcinoma (a type of breast cancer), are connected to Poland syndrome. Poland syndrome is a birth defect that may also be associated with other types of tumors. Because of these connections, there’s an increased focus on cancer awareness.

Most kids with Poland syndrome grow up to be adults. In general, the outlook for people with this condition is thought to be reasonably good.

Possible Complications When Diagnosed with Poland Syndrome in Children

Poland syndrome is a condition that doesn’t usually have complications, as most patients don’t have symptoms. Even with young children who do have some issues with their muscles and skeleton, these are often fixed at a very early age. Therefore, they aren’t usually considered a real complication.

However, the surgeries used to treat Poland syndrome can have complications of their own. For example, transferring fat from one part of the body to another can sometimes lead to the fat dying off. If this happens, doctors can fix it by draining the area surgically. Sometimes, fatty cysts can develop in the long term after the surgery, but these usually appear harmless when they are seen in breast scans. General complications that can happen after reconstructing the breast include infection, bleeding, and scars not healing well.

There might also be some complications with flap surgery, including the potential risk of losing the flap tissue, whether it’s complete or partial, and possibility of losing feeling at the site where the tissue was transferred from and to. Chest wall implants can sometimes have their own complications after surgery, these include fluid buildup, infection, displacement, rupture, or formation of a fibrous casing.

Common Complications After Surgery:

Fat necrosis after autologous fat transfer that can be corrected surgically
Formation of liponecrotic cysts after fat grafting
Breast reconstruction complications – infection, bleeding, poor healing of scars
Flap surgery complications – loss of flap tissue and loss of sensation
Chest wall implants complications – fluid buildup, infection, displacement, rupture, or fibrous casing formation

Preventing Poland Syndrome in Children

This syndrome, which affects children at a young age, is often challenging to identify because it is rare and displays in unique ways. This can make it difficult to explain to worried parents. Therefore, educating parents and spreading awareness is critical. This condition, which affects the chest wall, can often be mistaken for an unevenness in the body by family members. Usually, it is the child’s doctor who notices it during routine health check-ups.