A narrative review of Poland's syndrome: theories of its genesis, evolution and its diagnosis and treatment

Abstract

Poland's syndrome (PS) is a rare musculoskeletal congenital anomaly with a wide spectrum of presentations. It is typically characterized by hypoplasia or aplasia of pectoral muscles, mammary hypoplasia and variably associated ipsilateral limb anomalies. Limb defects can vary in severity, ranging from syndactyly to phocomelia. Most cases are sporadic but familial cases with intrafamilial variability have been reported. Several theories have been proposed regarding the genesis of PS. Vascular disruption theory, "the subclavian artery supply disruption sequence" (SASDS) remains the most accepted pathogenic mechanism. Clinical presentations can vary in severity from syndactyly to phocomelia in the limbs and in the thorax, rib defects to severe chest wall anomalies with impaired lung function. Most patients have subtle presentation at birth and milder forms in childhood. Functional limitations due to PS are usually minimal. Surgical treatment aims to improve pulmonary functions arising from severe thoracic deformities but is more often done to enhance the cosmesis. The use of adipose-derived mesenchymal stem cells and fat transfer have shown promising results in recent times for correction of chest defects and breast augmentation. Gaining deeper insights into the etiopathogenesis and clinical presentation of PS will improve the clinical recognition and management of this rare condition. In this review article, we aim to outline the details of this syndrome including its etiopathogenesis, evolution, spectrum of clinical manifestations, other systemic associations, diagnostic modalities, and recent advances in treatment.

Keywords: Poland’s syndrome (PS); brachysyndactyly; breast hypoplasia; pectoralis muscle hypoplasia; vascular disruption sequence.

Figure 1

Axial CT image shows the normal left pectoralis major muscle (arrow). The right pectoralis major muscle is not seen on the opposite side of the chest.

Figure 2

Axial CT image shows the normal left rib (long arrow). The corresponding right rib is short compared to the left (short arrow).

Figure 3

Infant with Poland’s syndrome showing the lung herniation on expiration. (Reproduced from Lung herniation: an uncommon presentation of Poland’s syndrome in a neonate at birth. Chandran S, et al. BMJ Case Rep. 2013 Aug 6;2013, with permission from BMJ Publishing Group Ltd.).

Figure 4

Infant showing hypoplasia of the left pectoral muscles and areola. On expiration intercostal recession is noted. (Reproduced from Lung herniation: an uncommon presentation of Poland’s syndrome in a neonate at birth. Chandran S, et al. BMJ Case Rep. 2013 Aug 6;2013, with permission from BMJ Publishing Group Ltd.).

Video 1

Video shows the lung herniation on expiration and recession in inspiration.