Poland syndrome

Overview

Poland syndrome is characterized by anatomic abnormalities such as the absence of the sternocostal head of the pectoralis major muscle, as well as other symptoms such as hypoplasia or absence of the pectoralis minor muscle and digital deformities such as syndactyly. Other abnormalities include ipsilateral breast hypoplasia or absence, excavatum deformities, and rib aplasia. Defects are almost always unilateral and affect the right side more frequently.

This condition is almost always sporadic. It is more frequent in males than in girls and tends to appear on the right side. The abnormalities of the chest wall are often corrected surgically.

What is Poland syndrome?

Poland syndrome is characterized by ipsilateral breast and nipple hypoplasia and/or aplasia, a lack of subcutaneous fat and axillary hair, the absence of the sternal head of the pectoralis major muscle, rib cage hypoplasia, and upper extremity hypoplasia.

Poland's syndrome is characterized by unilateral lack or underdevelopment of the pectoralis major muscle, hypoplasia of the breast, and, in certain cases, agenesis of ipsilateral costal cartilages, athelia, and ipsilateral finger webbing. It is sporadic and has a reported prevalence of 1 in 7000-1 in 100,000 live births, with a male preponderance (male: female ratio of 3:1).

As a result, it might have a variety of presentations. In 75% of instances, hypoplasia is limited to the right hemithorax. Underdevelopment or lack of one nipple, as well as patchy absence of hair in the axilla, may be associated characteristics. Females may have underdevelopment or aplasia of one breast as well as underlying (subcutaneous) tissues.

In certain cases, concomitant skeletal anomalies such as underdevelopment or lack of upper ribs, elevation of the shoulder blade (Sprengel deformity), and arm shortening with underdevelopment of the forearm bones may be present (i.e., ulna and radius). Other abnormalities that may be present include dextrocardia, diaphragmatic hernia, and renal anomalies.

Background

Patrick Clarkson, a New Zealand-born British plastic surgeon working at Guy's and Queen Mary's Hospitals in London, named it in 1962. Three of his patients had both a hand deformity and an undeveloped breast on the same side, he discovered. He addressed this with Dr. Philip Evans, a colleague at Guy's Hospital, who concurred that the condition was "not commonly understood." Clarkson discovered a reference to a comparable malformation reported nearly a century earlier by Alfred Poland in Guy's Hospital papers in 1841. Clarkson was able to locate Poland's dissected hand specimen, which was still housed in the hospital pathology museum.

Poland had dissected George Elt, a criminal who was claimed to be unable to draw his hand over his chest. Poland recognized the abnormality of the chest wall, which he documented in his essay; the hand was also dissected and saved for posterity in Guy's Hospital's museum, where it still stands today. Poland did not really characterize this illness since he just documented one single instance.

He also noticed the loss of the sternocostal region of the pectoralis major muscle with an intact clavicular origin, the absence of the pectoralis minor muscle, and hypoplastic serratus and external oblique muscles in his initial report, titled "Deficiency of the pectoral muscles." Poland's initial description did not include any mention of breast hypoplasia or hand abnormalities.

Epidemiology

Poland syndrome affects around one in every 36,000 to 50,000 births, with men being more likely to be affected than girls. Furthermore, right-sided preponderance is more common in males than in women. Cases are mostly sporadic, with just a few family cases recorded in the literature. Because Poland syndrome is frequently misdiagnosed and underreported, the precise occurrence is unknown, and incidence estimates are typically calculated.

What causes Poland anomaly?

The reason for the Poland anomaly is unclear. The majority of evidence suggests that something occurs during the sixth week of fetal development (gestation). The vascular (blood and lymph) system is most likely involved in this incident. Among the hypotheses are:

An disruption in the embryonic blood flow of the arteries beneath the collarbone (subclavian arteries). This might be due to rib forward development, which reduces blood supply.

A subclavian artery abnormality reduces the quantity of blood given to growing tissues on one side of the body.

Poland anomaly is seldom inherited and is usually sporadic. Though most PA cases are isolated within the family, familial incidence has been recorded. The precise mechanism of transmission has yet to be determined. Transmission from parent to child; siblings born to unaffected parents; and the prevalence of PA in distant family members such as cousins are examples of familial occurrences. Some experts believe that familial PA is caused by a genetic predisposition to events like as blood flow stoppage, which may predispose a person to the abnormality.

Symptoms of Poland syndrome

Poland syndrome patients often appear with cosmetic and aesthetic concerns and are asymptomatic. A more detailed history and physical examination are required in pediatric patients and those with more severe abnormalities. Although it is uncommon, a patient history of cardiac problems might be useful given the relationship of dextroposition and lung herniation with Poland syndrome.

Poland syndrome is diagnosed by a physical examination of the anterior chest wall and any concomitant anatomic limb abnormalities. Palpation is used to assess asymmetry of the chest wall musculature as well as osseous and cartilaginous rib cage abnormalities in the anterior chest wall. Visual inspection and palpation are typically sufficient to detect absence or hypoplasia of the costosternal pectoralis major and pectoralis minor muscles.

Overlying soft tissues of the chest wall are also thinner than usual. Nipple absence or hypoplasia is common, and regional alopecia of the anterior chest wall and axilla is usually seen. Female patients may have breast asymmetry and hypoplasia, as well as a higher position of the breast on the afflicted side.

A physical examination should be undertaken to assess the muscular caliber of the serratus, latissimus dorsi, and trapezius muscles, as hypoplasia of these muscles can also be present. The latissimus dorsi must be evaluated, especially in the context of a proposed surgical operation. A cardiac examination, particularly in the situation of left-sided Poland syndrome, should be undertaken to evaluate for dextroposition.

Visual and physical examination of the ipsilateral limb is critical since limb malformations are present in the majority of cases, notably syndactyly; hypoplastic metacarpals and phalangeal abnormalities of the index, middle, and ring fingers. In a juvenile patient, the relationship with Klippel-Feil and Mobius syndromes demands a physical examination to rule out additional indications such as cervical spine anomalies and craniofacial abnormalities.

Additional features of Poland syndrome include the following:

Hypoplasia or aplasia of serratus, external oblique, pectoralis minor, latissimus dorsi, infraspinatus, and supraspinatus muscles
Total absence of anterolateral ribs and herniation of lung
Symphalangism with syndactyly and hypoplasia or aplasia of the middle phalanges

Diagnosis

Prenatal sonographic examination can reveal unilateral limb abnormalities and unilateral chest wall asymmetry, prompting further investigation for additional related anatomic anomalies. Although physical examination is typically adequate to diagnose Poland syndrome in an adult patient, additional evaluation using CT can be conducted, particularly in the context of surgical planning or further evaluation for related cardiac abnormalities such as lung herniation.

On mammography, hypoplasia of the unilateral breast and hypoplasia of the pectoralis major are frequently seen. A unilateral hyperlucent thorax on a chest radiograph is a common finding. Ultrasound of the chest wall can also be used to detect pectoralis major and minor muscular abnormalities.

Differential Diagnosis

Normal breast asymmetry is a differential diagnosis for Poland syndrome in female patients. Although it is not generally necessary, additional imaging, including CT, can assist identify breast asymmetry caused by Poland syndrome by examining the architecture of the pectoralis major muscle.

A surgically missing pectoralis major muscle might explain an inadvertently reported nonexistent pectoralis muscle on a CT scan. When a unilateral hyperlucent hemithorax is seen on a radiograph, the differential diagnosis includes airway obstruction, Swyer-James syndrome, a mastectomy, a unilateral big bullae, and pneumothorax.

Management

Although surgery is seldom required, it may be needed for causes such as paradoxical movement of the chest wall, hypoplasia or aplasia of the female breast, and aesthetic indications for men and women with chest wall asymmetry. In the case of severe rib hypoplasia and aplasia, chest wall reconstruction may also be indicated. The surgical procedure varies depending on the degree of deformity, as well as the patient's age and gender. In most cases, a muscle flap is used, as with breast augmentation in women.

In the treatment of sternal and rib deformities, bone transplants can be employed. Given that the ipsilateral latissimus dorsi muscle in a patient with Poland syndrome may be hypoplastic, the contralateral latissimus dorsi muscle would be the next plausible candidate for a muscle flap operation. Syndactyly release may typically be accomplished in a juvenile child without major difficulties and with or without a skin transplant.

Indications of surgery

Patients with Poland syndrome come to the clinic for treatment of chest deformity and breast asymmetry. Breast development, the presence of a latissimus dorsi muscle, and the degree of chest wall deformity are the three key criteria that determine the time and possibilities for reconstruction.

If the breasts are not completely grown, autologous tissue restoration is postponed until they are. Females may benefit from temporary breast reconstruction with tissue expansion during breast growth. With a temporary tissue expander breast implant, the hypoplastic breast can be extended slowly to mimic breast growth on the unaffected side.

This aids in stretching the constricted skin and maybe lowering the elevated nipple in preparation for latissimus flap restoration. Depending on the desired size, the latissimus muscle can be employed with or without a permanent implant once the breasts have matured and the breast envelope has been adequately stretched.

A patient with modest breast asymmetry may be a candidate for permanent implant expander correction. A port on an implant expander can be utilized to slowly fill the implant over time postoperatively until symmetry is attained; the port is then removed by a separate incision, and the implant is left in place permanently. The Becker implant, which is filled with saline and made of silicone gel, is the most common breast implant expander.

Male patients as young as 13 years old can have their chest deformities repaired using the latissimus dorsi muscle. When rib anomalies are minor, restoration with the latissimus dorsi muscle results in adequate chest wall symmetry. However, if the condition is severe, accompanying rib anomalies may need to be corrected to improve the overall prognosis.

Aesthetic success following surgery is usually satisfactory. In most cases, there is no considerable muscular weakening.

Contraindications

Breast implants and expanders should not be implanted in patients who are too young to accept the burden of a foreign body and deal with the potential problems. Patients must be able to withstand minor enlargement treatments on occasion. For younger individuals, remote port tissue expanders may be preferable. Because the real implant can be perforated while attempting to reach the port in a moving target, integrated port tissue expanders can be utilized in young patients with a greater risk of deflation.

Complications

The majority of Poland syndrome patients are asymptomatic and have little functional signs. The prognosis is typically determined by the extent of surgical intervention and varies according to the severity of the illness. Complications documented in the literature are often not different from identical operations performed for other purposes.

Poland syndrome surgery cost

The cost of surgery is determined by several factors, including the part of your body that is being repaired, the degree of the deformity, and your insurance coverage. Any associated expenses, such as anesthesia, are invoiced separately.

If you have surgery, you will almost certainly require physical therapy as a follow-up treatment. A physical therapist can assist you in learning how to use new or existing muscles to complete daily chores. Depending on the provider and your insurance coverage, sessions might cost roughly $100 apiece.

Conclusion

Bilateral signs have also been documented, however they are quite unusual. There are several forms of the condition, ranging from minor hypoplasia of the pectoralis major muscle to severe hypoplasia of the thoracic wall. Upper limb anomalies range from moderate syndactyly to severe brachysyndactyly.

In asymptomatic situations, a primary care physician and a radiologist are frequently the only members of the healthcare team involved in diagnosing and educating the patient on the presenting issue. In the case of planned surgical intervention, a primary care physician is typically involved in assessing the patient's health state prior to surgery, often in collaboration with a surgeon.

A radiologist may be able to aid a surgeon in determining the degree of hypoplasia and absence of the pectoralis muscles, as well as the degree of hypoplasia of the latissimus dorsi; this may frequently help guide surgical technique based on the severity of the condition. A coordinated approach involving a pulmonologist, a radiologist, and a cardiothoracic surgeon is critical in directing reconstruction as well as post-surgical follow up in severe cases of chest wall aplasia.