Poland Sequence: Retrospective Analysis of 66 Cases.

INTRODUCTION AND OBJECTIVES

The literature reports many variations of Poland syndrome, which is a congenital disorder and a rare condition. The associated features are extremely variable, including alterations in the ipsilateral thorax and upper extremity and other malformations. This is used to designate the condition as Poland sequence (PS) because a sequence is a primary defect with a secondary cascade of structural changes. It is generally accepted that it is characterized as pathognomonic by absence/aplasia of the sternocostal aspect of the pectoralis major muscle of one side. Because it is considered a rare disease, and the incidence is low, we aimed to determine the features in all patients diagnosed at our institution to analyze the patterns and outcomes. We also revised the diagnosis according to the new classification proposed by Romanini et al to facilitate future treatments as well as to propose an improvement in the assessment and initial behavior when PS is suspected.

METHODS

We performed a retrospective study using our database from 1988. We identified 66 patients with a clinical diagnosis of PS in the Pediatric Plastic Surgery Unit of Hospital Sant Joan de Deu, Barcelona. We analyzed the medical charts, records, photographs, and imaging information to gather all the epidemiological information and clinical history, as well as the treatments received to analyze our experience with these patients. We used the TBN classification of Romanini et al, adding an S if there was upper extremity involvement (TBNS).We also conducted a systematic review consulting the following databases: PubMed, Cochrane Plus, Scopus, Web of Science, and Europe PMC.

RESULTS

Among the 66 patients, 27 were men, and 39 were women. The right side was affected in 51 patients (77.3%) (19 men and 32 women). In a total of 37 patients (56.1%; 16 men and 21 women), there was no upper extremity involvement. We found 40 cases with other associations, with scoliosis being the most common. Before 2007, the team performed surgery in 1 male patient and 4 female patients; after 2007, the actual team has performed reconstruction in 8 male patients and 16 female patients. In the female patients, the average volume of breast implants was 252.5 cc, and the average volume for fat grafting was 103.5 cc on the side affected with PS. There is a wide range of chest-breast clinical involvement, which was why we decided to readdress all the imaging and clinical history to classify the patients using a new classification system to learn how to optimally treat these cases in the future. In female patients, we used Romanini's TBN classification and added an S for upper extremity involvement; the T1B1N1S0 was the most frequently observed classification. Owing to the sample size and the disparity in sex distribution, we also reassessed publications in PubMed, Cochrane Plus, Scopus, Web of Science, and Europe PMC with more than 5 cases; we found that there were a total of 1600 patients with PS in the literature and that the distribution was almost 50% for men and women, including the patients in our study (611 women, 561 men).

CONCLUSIONS

We propose to include the presence of upper extremity involvement in Romanini's TBN classification (TBNS) for optimal management of these patients and use a standard number and profile for image documentation presurgery and postsurgery. We found that in the literature the ratio of men and women with PS was not 2 to 3:1, but 1:1. The most frequent phenotype of PS was T1B1N1S0 (hypoplasia or aplasia of the pectoralis muscles and soft tissue/breast hypoplasia/nipple-areolar complex with dislocation of <2 cm / absence of upper extremity involvement). There was no relationship between the side involved and patients' sex for the severity of the deformity and between the severity of the thoracic involvement and ipsilateral upper extremity association. In the literature, there are several plastic reconstruction methods available ranging from standard implants to microsurgery techniques. The selected procedure depends on the phenotype, patients' needs and expectations, availability of surgery in the hospital, and surgeons' criteria; thus, surgery has to be personalized while providing a match related to the risk/benefit, taking into account the degree of functional impairment. Since the author started her practice in the hospital in 2007, the timing for procedures has been proposed at the end of adolescence with 2 consecutive appointments without changes in the breast-thorax measures. The procedure performed has included implant use with lipofilling, yielding no major complications and a high rate of satisfaction during a maximum of 10 years of follow-up.