Poland Syndrome
A 17-year-old male presented for a checkup. On physical examination, underneath self-made padding taped to his chest, he had hypoplasia of the left pectoralis muscle, areola, and nipple. The rest of the physical examination findings were unremarkable.
The young man and his sister had emigrated from Honduras after having witnessed their father’s murder approximately a year ago and having received many threats against their lives. Additionally, he had been having a difficult time adjusting to school, and he stated that the appearance of his chest caused such anxiety that he avoided situations in which he would be shirtless. He had tried weight training and creatine supplements to strengthen his muscles without improvement on the affected side; he asked whether surgical repair was possible.
A chest radiograph showed apparent lucency over the patient’s left hemithorax, consistent with hypoplasia of or absence of the pectoral muscles. Radiographic findings were otherwise normal. Results of an electrocardiogram also were normal.
He was diagnosed with Poland syndrome and was referred to a psychologist to help with the posttraumatic stress associated with his father’s death, the anxiety over his chest, and the problems related to having relocated to a new country, as well as to determine whether he was ready for reconstructive surgery.
Poland syndrome or sequence is a congenital unilateral chest wall anomaly that affects 1 in 20,000 persons. Its clinical presentation is variable and can include any or all of the following: the absence of the pectoralis major or minor, hypoplasia of subcutaneous tissue, hypoplasia or absence of the breast or nipple, and ipsilateral hypoplastic hand with or without syndactyly or brachydactyly.1,2 It is three times more common in men and boys, and 75% of cases are right-sided.
Although the cause is unknown, evidence suggests that the defect may result from the interruption of blood flow in the subclavian artery early in gestation.2 Maternal cigarette smoking is a known risk factor.
Mild cases usually present during adolescence, when development of the contralateral muscle and/or breast accentuates the deformity.3 Treatment options include conservative management and surgical procedures such as autologous fat injections and muscle transfers.3,4
Prior to reconstructive surgery, it is important to evaluate the patient’s perception of his or her body image, since it correlates strongly with quality of life (QOL). A case-control study of patients in Germany with pectus deformities of the chest compared preoperative mental health and body image perceptions of the two groups.5 Participants’ disease-specific QOL, health-related QOL, body image, and psychological impairment were assessed using objective questionnaires and subjective self-evaluations. The results showed a significant decrease in self-esteem among patients with chest deformities. By assessing both physical and mental well-being, the study found that body image had a significant impact on QOL.5 As a result, the authors recommended preoperative evaluation of body image in patients considering reconstructive surgery. They also observed that poor preoperative body image may negatively affect postoperative satisfaction and could exacerbate existing psychiatric disorders or cause new psychiatric problems to develop. Therefore, preoperative psychiatric evaluation is important in patients with Poland syndrome and other chest deformities.
References
1. Urschel, HC Jr. Poland syndrome. Semin Thorac Cardiovasc Surg. 2009; 21(1):89-94.
2. Cingel V, Bohac M, Mestanova V, Zabojnikova L, Varga I. Poland syndrome: from embryological basis to plastic surgery. Surg Radiol Anat. 2013;35(8):639-646.
3. Sood A, Ahuja N. Chest wall reconstruction in male Poland Syndrome. Eplasty. 2010;10:eplasty-d-10-00137.
4. Seyfer AE, Fox JP, Hamilton CG. Poland syndrome: evaluation and treatment of the chest wall in 63 patients. Plast Reconstr Surg. 2010;126(3):902-911.
5. Steinmann C, Krille S, Mueller A, Weber P, Reingruber B, Martina A. Pectus excavatum and pectus carinatum patients suffer from lower quality of life and impaired body image: a control group comparison of psychological characteristics prior to surgical correction. Eur J Cardiothorac Surg. 2011;40(5):1138-1145.