Poland syndrome: from embryological basis to plastic surgery
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- Cingel, V., Bohac, M., Mestanova, V. et al. Surg Radiol Anat (2013) 35: 639. doi:10.1007/s00276-013-1083-7
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.
KeywordsPoland syndromeCase reportsEmbryologySurgical treatment3D CT imaging
Broad range of hand anomalies in Poland syndrome, according to 
Five digits present even if hypoplastic
Functional border digits with the absence of central digits
More severe absence deformities with no functional digits
Radial ray defects with absent thumb
But new cases which have been described show that this classification does not include all possible hand anomalies. Bamforth et al.  described a case of Poland syndrome with phocomelia-like deficiency, Powell et al.  described a case with adactyly of the ulnar rays. Furthermore, the isolated pectoral anomaly with normal hand, which is well described in familial cases of Poland syndrome , is not included in this classification. In 2001, Al-Qattan  revised the categorization of hand anomalies in patients with Poland syndrome and subdivided them into seven types according to the severity of the deformity (from normal hand to phocomelia-like deficiency). The presence of the other anomalies in patient with Poland syndrome is much more complex in the newest classification according to Catena et al. . They classified hand and upper limb anomalies in eight groups based on the clinical degree of severity and the presence of coexisting associated anomalies.
Poland syndrome and other congenital anomalies
Poland syndrome is a rare congenital anomaly classically consisting of the combination of unilateral aplasia/hypoplasia of the sternocostal head of the major pectoral muscle and ipsilateral brachysyndactyly. Other usual anomalies in Poland syndrome are malformations of anterior chest wall and breast [26, 50]. A rib cage depression (the most common thoracic deformity present in 20 % of cases), scoliosis, partial agenesis of the ribs (usually II–IV or II–V), a contralateral pectus carinatum, or even a normal rib cage may be found among patients with Poland syndrome [17, 51]. Other features of Poland syndrome include breast hypoplasia or aplasia, nipple abnormalities, skin atrophy, and the absence of sweat glands . In Poland syndrome, the thoracic wall deformities are not as obvious at birth as the hand deformities. However, when female patients reach adolescence, the thoracic deformity often becomes more evident as absent or asymmetrical breast development occurs . Moreover, dextrocardia, situs inversus, lung herniation, renal hypoplasia, certain leukemias, vertebral and lower limb malformations or agenesis of in female Müllerian ducts agenesis have been described in rare cases [2, 4, 27, 42]. Clinical manifestations of Poland syndrome are extremely variable and rarely all the features are recognized in one individual.
The incidence of Poland syndrome is about 1 in 30,000 live births . The frequency varies from 1 in 17,213 live births in Japan  to 1 in 52,530 live births in Hungary . Chest and arm deformities are observed more frequently in males than in females (ratio about 3:1) with the right side (in 75 % of cases) of the body affected more often than the left [30, 48]. This deformity may account for 14 % of cases of breast aplasia . However, most of the described cases are sporadic, rare familial incidence of Poland syndrome is also presented. For example, Sierra Santos and González Rodríguez  describe the occurrence of Poland syndrome in two cousins. Darian et al.  describe an absence of the right pectoral major muscle and hypoplasia of the ipsilateral breast in three females and hypoplasia or agenesis of the right pectoral major muscle in two males of the same family.
The etiology of this syndrome is still being discussed. Different etiologic factors of the Poland syndrome are taken into account: genetic, vascular disruption during embryogenesis and also teratogenic effect (e.g., cigarette smoking during pregnancy, viral infections). Skeletal muscles are derived from paraxial mesoderm, the somitic myotomes, which give rise to muscles of the axial skeleton, body wall, and limbs [44, 45]. Embryologically, the pectoral mass splits by the sixth week of gestation into a clavicular head, which is the primordium of the clavicular head of the pectoralis major muscle, and a costal head, which is the primordium of the pectoralis minor muscle and the sternocostal head of the pectoralis major. By this time, the process of programmed cell death (apoptosis) between the digital rays of developing upper limb begins (from day 38). The intervening tissue between the digits of the hand starts to disappear to form free fingers. Hence, it appears that an insult during the sixth week of gestation may be responsible for anomalies of the pectoralis major muscle and hand syndactyly [1, 24]. This possible intrauterine insult may be a vascular disruption and resultant hypoxia, because the sixth and seventh week is also a time of remodeling the aortic arches into definitive arterial system.
Bavinck and Weaver  suggested that Poland syndrome is a result of an interruption of the early embryonic blood supply in the subclavian arteries, the vertebral arteries and/or their branches. They introduced the term “subclavian artery supply disruption sequence” (SASDS). SASDS can be a possible basis for Poland syndrome, as well as for other birth defects as Klippel-Feil, Möbius and Sprengel anomalies. The hypothesis of subclavian artery malformation was confirmed by Bouvet et al. , who showed differences of the velocity of the systolic increase in the arterial volume between the two arms (normal arm vs. arm with congenital anomaly) in patients with Poland syndrome. Beer et al.  also suggested that vascular malformations combined with Poland syndrome seem to occur more often than anticipated.
Other hypotheses for possible development of Poland syndrome are mechanical insults (trauma of mother’s abdomen, amniotic bands or pressure on umbilical cord), infections (e.g., influenza) or atrophy of the motor neurons of anterior horns of the spinal cord [18, 52]. However, these hypotheses seem to be less presumable.
Cases of Poland syndrome associated with leukemia, carcinoma of the hypoplastic breast, and other conditions, confirm the relationship between developmental defects and tumors, and require oncologic awareness .
The main purpose of surgical correction in Poland syndrome is to improve chest wall symmetry and especially, in women the breast mound must be reconstructed . Creation of an anterior axillary fold and smoothing out the infraclavicular defect greatly improves the final result. Also cardio-respiratory function may be impaired, but serious conditions requiring early operative correction are rare. When present, unilateral costochondral agenesis involves one to three segments in the mid-anterior chest and sternal depression to that side. Operative planning in such cases includes a multi-layered approach to provide a solid base for soft tissue reconstruction of the more superficial layers . Unfortunately, surgical treatment of the breast deformities cannot be accomplished before adolescent age when development of the body is complete. Due to these conditions, reconstruction of patients with Poland syndrome requires individualization by surgeon to address the particular degree of severity.
Known surgical techniques include insertion of a breast expander, breast implant or customized chest wall implant [3, 22, 23, 32, 36], use of a pedicled latissimus dorsi flap (when unaffected by the syndrome) [19, 22], use of the rectus abdominis muscle flap when the latissimus dorsi is absent [17, 21, 31, 43], microsurgical transfer of a deep inferior epigastric flap , or even osteoplastic surgery of the rib cage . In addition, the laparoscopically harvested omentum flap can be considered as a reconstructive option that offers a very interesting esthetic result to solve the problems in Poland syndrome . Among the relatively new surgical techniques which may be proposed in Poland syndrome, is a lipostructure by Coleman’s technique [10, 11] sometimes known as lipofilling or lipomodeling [25, 38], and particularly interesting because of the possibilities it offers for filling the defect and making the soft tissues more supple, and also because of its low morbidity. Autologous fat injection can be used alone, or more often associated with traditional reconstruction techniques in all grades of Poland syndrome. This technique is useful to add volume and especially to correct the contour defects of this syndrome [34, 40].
Each of these techniques may achieve excellent results depending on the degree of deformity. It should be borne in mind that the discomfort of Poland syndrome is purely esthetic and that it has no functional impact. Surgical teams must, therefore propose for each individual case the most appropriate treatment, carrying of course the least morbidity and leaving minimal scarring and functional sequelae to achieve complete and adequate rehabilitation.
The other problem in Poland syndrome is the treatment of malformed hand. Patients with normal hand (with isolated pectoral anomaly) or form fruste deformity (the hand appears smaller only when compared to the contralateral side) have normal hand function and require no treatment . In the cases of simple syndactyly, the treatment consists of finger separation. This should be done in preschool age (before children start learning how to write). Syndactyly fingers surgery is accompanied by web formation usually with the use of either two triangular flaps or one rectangular flap. Attention should be paid to the cases of finger separation from the others on both their sides to prevent blood supply impairment. In mild cases is required just surgical enlargement of finger web space . In case when all digits are functionless or absent salvage of some hand function is possible by toe transfers. A phocomelia-like deficiency is best treated with prosthesis .
In our article, we described two cases of Poland syndrome and we discussed the possible embryonic backgrounds of this anomaly as well as the importance of plastic surgery resulting in patients’ normal life.
Conflict of interest
There is no financial or other relationship that might be perceived as leading to a conflict of interest (i.e., affecting author’s objectivity).