Surgical and Radiologic Anatomy

, Volume 35, Issue 8, pp 639–646

Poland syndrome: from embryological basis to plastic surgery

Authors

  • Vladimir Cingel
    • Department of Pediatric Surgery, Faculty of Medicine, Children’s Medical HospitalComenius University in Bratislava
  • Martin Bohac
    • Department of Plastic Surgery, Faculty of Medicine, University HospitalComenius University in Bratislava
  • Veronika Mestanova
    • Institute of Histology and Embryology, Jessenius Faculty of MedicineComenius University
  • Lenka Zabojnikova
    • Department of Pediatric Surgery, Faculty of Medicine, Children’s Medical HospitalComenius University in Bratislava
    • Institute of Histology and Embryology, Faculty of MedicineComenius University in Bratislava
Review

DOI: 10.1007/s00276-013-1083-7

Cite this article as:
Cingel, V., Bohac, M., Mestanova, V. et al. Surg Radiol Anat (2013) 35: 639. doi:10.1007/s00276-013-1083-7

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.

Keywords

Poland syndromeCase reportsEmbryologySurgical treatment3D CT imaging

Introduction

In 1,841, medical student Sir Alfred Poland, based on an autopsy of a 27-year-old man, described a new syndrome characterized by a complete unilateral absence of the m. pectoralis major, m. serratus anterior, and m. obliquus externus abdominis with ipsilateral thoracic and upper limb defects. The severity and extension of Poland syndrome features vary greatly among the individuals. The spectrum of thoracic defects in Poland syndrome includes a wide range of anomalies from subtle hypoplasia to aplasia of the breasts and ribs, chest wall depression, sternal anomalies, absence of axillary hair, and limited subcutaneous fat. A wide variety of chest anomalies ranging from breast and pectoralis muscle hypoplasia to hypoplasia or absence of the pectoralis muscles combined with skeletal anomalies of the ribs or sternum can be detected by 3D computed tomography scans [50]. Patients with Poland syndrome may have a broad range of hand anomalies, which are usually subdivided into four types (Table 1) [20].
Table 1

Broad range of hand anomalies in Poland syndrome, according to [20]

Type 1

Five digits present even if hypoplastic

Type 2

Functional border digits with the absence of central digits

Type 3

More severe absence deformities with no functional digits

Type 4

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. [5] described a case of Poland syndrome with phocomelia-like deficiency, Powell et al. [41] 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 [14], is not included in this classification. In 2001, Al-Qattan [1] 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. [9]. They classified hand and upper limb anomalies in eight groups based on the clinical degree of severity and the presence of coexisting associated anomalies.

Case reports

We report two cases of severe form of Poland syndrome that we have been treating at the Department of Pediatric Surgery, Comenius University in Bratislava, Slovakia. A 5-month-old boy was referred for reconstruction of abnormal chest on left side and an incomplete simple syndactyly of the second and third finger as well as symbrachydactyly of the second and third finger on the left hand (Figs. 1, 2). A chest computed tomography scan (CT) with 3D reconstruction (Figs. 3, 4) showed deformation of the second, partial absence of third and fourth and deformation of fifth to eighth ribs on the left hemithorax. The sternum was abnormal, only the manubrium was normally developed. There was also displacement of the heart to the right side. The patient underwent surgical procedure for the affected side of the chest at the age of 5 years. The intraoperative findings confirmed the absence of pectoralis major and minor muscles with no solid structure coverage of precordium. It was decided to reconstruct missing part of the third rib with free rib autotransplant from sixth rib from contralateral side of thorax and correction of sternum with combination of transverse wedge and axial osteotomy (Fig. 5). After operation, the patient was discharged without any complications. At 6 years of age, the patient underwent second-stage operation to digital separation of second and third fingers of the left hand. We used, after certain defatting of flaps, for web formation triangular flaps in combination with full-thickness skin graft. Post-operatively there was nearly complete finger motion. Three years after operation of the thorax (patients’ age of 8 years), we performed a complete control radiological and surgical examination. A cosmetic effect of the chest is satisfactory (intervention of plastic surgery is possible in the future, due to agenesis of thoracic muscles, Fig. 6) and according to 3D CT imaging, the correction of the third rib with the free rib autotransplant proved to be a appropriate surgical procedure (Fig. 7). The affected left hand is hypoplastic, the third finger is slightly deviated (Figs. 8, 9), but the functions of the hand after operations is well preserved.
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Fig. 1

Case 1 at age of 5 months. Affected left side of the thorax with agenesis of pectoralis muscles and partial agenesis of ribs

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Fig. 2

Case 1 at age of 5 months. An incomplete syndactyly of the second and third finger as well as a nearly complete symbrachydactyly of the second and third finger on the left hand

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Fig. 3

Case 1 at age of 5 months. Computed tomography imaging of the thorax with partial agenesis of ribs on the left side. The heart was displaced to the right

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Fig. 4

Case 1 at age of 5 months. 3D computed tomography imaging of the thorax. Partial agenesis and deformation of ribs on the left side (the most affected is the third rib)

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Fig. 5

Case 1 at age of 5 years, a per-operative photo. 1 Transplanted part of the free rib cartilage, 2 presternal metal plate fixation, 3 Redon drain catheter

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Fig. 6

Case 1 at age of 8 years (3 years after operation of affected chest)

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Fig. 7

Case 1 at age of 8 years—a control 3D CT imaging of thorax 3 years after operation. Focused on the substituted third hypoplastic rib by free rib transplant on the left side

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Fig. 8

A X-ray of the left hand 2 years after digital separation of third and fourth fingers, with acceptable scelet formation—dorsal view

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Fig. 9

3D computed tomography of the left hand 2 years after digital separation, with acceptable scelet formation—dorsal view

The second case of Poland syndrome, a 5-year-old boy, was referred for reconstruction of chest wall deformity (Fig. 10). Patient’s hands were without any abnormalities. A CT with 3D reconstruction (Figs. 11, 12) findings revealed partial agenesis of second, third and fourth ribs of right hemithorax and axial deviation of sternum. Intraoperatively also the absence of major pectoralis muscle was verified and similar operation technique as in a previous case was applied (Fig. 13). After operation, the patient was discharged without any complications to the recovery room. 3.5 years after surgery, the result of the contour of the chest wall is excellent (Fig. 14).
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Fig. 10

Case 2 at age of 3 years—clinical picture of pectus excavatum. On the affected patient’s right side, abnormal anterior axillary fold is visible

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Fig. 11

Case 2 at age of 5 years—computed tomography imaging of the thorax with partial agenesis of ribs on the right side

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Fig. 12

Case 2 at age of 5 years—3D computed tomography imaging of the thorax. Partial agenesis and deformation of ribs on the right side and axial deviation of sternum

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Fig. 13

Case 2 at age of 5 years, a per-operative photo. The absent part of rib is visible between asterisks

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Fig. 14

Case 2 at age of 8.5 years. 3D computed tomography imaging of the thorax 3.5 years after operation. Visible the result of substitution of the third hypoplastic rib in the right side by free rib transplant

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 [39]. 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 [12]. 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.

Incidence

The incidence of Poland syndrome is about 1 in 30,000 live births [29]. The frequency varies from 1 in 17,213 live births in Japan [49] to 1 in 52,530 live births in Hungary [13]. 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 [33]. However, most of the described cases are sporadic, rare familial incidence of Poland syndrome is also presented. For example, Sierra Santos and González Rodríguez [47] describe the occurrence of Poland syndrome in two cousins. Darian et al. [14] 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.

Embryological background

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 [6] 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. [8], 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. [7] 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 [16].

Surgical treatment

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 [37]. 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 [35]. 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 [28], or even osteoplastic surgery of the rib cage [46]. 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 [12]. 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 [1]. 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 [15]. 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 [1].

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).

Copyright information

© Springer-Verlag France 2013