Poland syndrome: from embryological basis to plastic surgery

Abstract

Poland syndrome is a rare congenital anomaly described by Sir Alfred Poland over 170 years ago. Combination of unilateral aplasia of the sternocostal head of musculus pectoralis major, and an ipsilateral hypoplastic hand with simple syndactyly and short fingers is typical for this condition. It occurs more frequent among males, and is usually situated on the right hemithorax in the unilateral form. The pathogenesis of Poland syndrome is not clear. Most of the authors assume that the etiologic insult is vascular in nature. During the sixth week of gestation, not only the pectoral mass splits (future muscles of the thorax) and intervening tissue between the finger rays of hands starts to disappear but also the vascular differentiation from six aortic arches begins. In our paper we report two cases of children with Poland syndrome, who underwent surgical procedure in the Department of Pediatric Surgery, Comenius University in Bratislava, Slovakia. Our case reports are focused on pre-operatively and also post-operatively imaging (RTG, CT, and 3D CT imaging) of the affected thorax and arm, as well as the operative reconstruction technique of abnormal ribs. We also discussed the possible embryonic backgrounds of this anomaly as well as the importance of plastic surgery resulting in patients' normal life.

Multimodality imaging features of Poland syndrome associated with cervical rib and elongated transverse process of cervical vertebrae

“…Depending on the physicians' specialty and the referral pattern, a variable incidence of the anomalous defects is recognized such as rib defects (usually II-IV or II-V), absence of shoulder girdle muscles, and breast hypoplasia or agenesis athelia, vertebral anomalies and renal malformations [8]. Moreover, dextrocardia, situs inversus, lower limb malformations, Mullerian duct anomalies, malignancies like acute leukemia, non-Hodgkin lymphoma, lung cancer, and breast cancer have been described in association with PS [6,9].…”

“…The operative reconstruction of the chest wall is based on the anatomy, the degree of severity and gender. Several treatment options have been described for chest wall reconstruction in patients with PS, including the use of breast implant or tissue expander combined with a flap, autologous fat injection, a chest wall prosthesis, local or free flap reconstruction such as a transverse musculocutaneous gracilis flap, latissimus dorsi muscle transfer, a partial latissimus dorsi flap, a rectus abdominis muscle transfer, a laparoscopically harvested omental flap, and the use of a free anterolateral thigh perforator flap [9,10].…”

Poland Syndrome with Ipsilateral Hypoplasia of Gluteal Muscles and Contralateral Hidradenitis Suppurativa

“…Vascular etiology, such as “subclavian artery supply disruption sequence”, was proposed as a possible link between a number of birth defects including Poland syndrome, Klippel-Feil syndrome, Möbius syndrome, and Sprengel’s deformity [ 3 ]. Another hypothesis puts forward a disruption of the embryonic lateral plate/para-axial mesoderm between the 16 th and 28 th day after fertilization [ 4 ]. However, both of the above-mentioned theories cannot explain the wide clinical variability, familial occurrence, or presence of bilateral symptoms.…”

Answers to the Medical Quiz

“…The most accepted one is the vascular compromise which was thought to occur in first trimester when the subclavian artery get compromised resulting in arrested growth of the supplied areas. Other described mechanisms are genetic inheritance and teratogenicity 3,4 .…”

“…Poland's syndrome could be associated with ipsilateral hand anomalies, ipsilateral breast and nipple hypoplasia, and/or aplasia, deficiency of subcutaneous fat and axillary hair, hypoplasia of the rib cage, dextrocardia, encephalocele, microcephaly, neural tube defect, liver, renal and biliary duct anomalies, platelet disorders, leukemia and lymphoma. Other muscles could be involved: supraspinatus, infraspinatus, deltoid, serratus anterior, intercostals, latissimus dorsi and pectoralis minor [1][2][3][4][5][6][7][8][9][10] .…”