Poland Syndrome 

Updated: Jul 03, 2018
Author: Bradon J Wilhelmi, MD; Chief Editor: James Neal Long, MD, FACS 

Overview

Background

Named after Sir Alfred Poland, Poland syndrome includes the features of ipsilateral breast and nipple hypoplasia and/or aplasia, deficiency of subcutaneous fat and axillary hair, absence of the sternal head of the pectoralis major muscle, hypoplasia of the rib cage, and hypoplasia of the upper extremity. In 1841, Sir Alfred Poland described this chest wall anomaly in the Guy's Hospital Gazette while still a medical student based on findings of one cadaver dissection. In his original description, titled "Deficiency of the pectoral muscles," he specifically noted absence of the sternocostal portion of the pectoralis major muscle with an intact clavicular origin, absence of the pectoralis minor muscle, and hypoplastic serratus and external oblique muscles. Poland did not outline the breast hypoplasia or hand deformities in his original description.

Problem

Poland syndrome can present with ipsilateral involvement of the chest muscles, skin and subcutaneous tissues, bones, and upper extremity.[1, 2, 3] The absence of the sternal head of the pectoralis major muscle is considered the minimal expression of this syndrome. Involvement of adjacent muscles, including the pectoralis minor, serratus, latissimus dorsi, and external oblique, also has been described.

The skin of the area is hypoplastic with a thinned subcutaneous layer, and the axillary hair may be absent. The ipsilateral nipple is often smaller and higher in both male and female patients, and the breast is generally hypoplastic in female patients.

Skeletal deformities may involve absence of portions of the ribs or costal cartilages anteriorly. In severe cases, anterior lung herniation may be present. The scapula may be smaller with winging; this is termed Sprengel deformity. (A study by Yiyit et al of 113 patients with Poland syndrome found Sprengel deformity to be the most frequent concurrently existing anomaly, with the condition present in 18 patients [16%].[4] ) The upper extremity also may be hypoplastic. The upper arm, forearm, and fingers may be shortened, which is termed brachysymphalangism. Simple, complete, or incomplete syndactyly can also be found in patients with Poland syndrome.[5]

The classic ipsilateral features of Poland syndrome include the following[6] :

  • Absence of sternal head of the pectoralis major muscle

  • Hypoplasia and/or aplasia of breast or nipple (athelia)

  • Deficiency of subcutaneous fat and axillary hair

  • Abnormalities of rib cage

  • Upper extremity anomalies; short upper arm, forearm, or fingers (brachysymphalangism)

Additional features of Poland syndrome include the following:

  • Hypoplasia or aplasia of serratus, external oblique, pectoralis minor, latissimus dorsi,[1] infraspinatus, and supraspinatus muscles

  • Total absence of anterolateral ribs and herniation of lung

  • Symphalangism with syndactyly and hypoplasia or aplasia of the middle phalanges

Epidemiology

Frequency

Poland syndrome is uncommon but not rare. While plastic surgeons encounter more female patients than male patients with this deformity (because the female patients seek out treatment of breast asymmetry), no gender predilection is exhibited. Many men remain undiagnosed unless they seek attention for the treatment of associated hand anomalies. Because Poland syndrome is underreported and infrequently diagnosed, the exact incidence is difficult to determine. In one review, the incidence of Poland syndrome was estimated at 1 in 30,000. The right side is affected twice as often as the left.

Most Poland syndrome cases arise sporadically. However, several reports exist of family members and twins with the same diagnosis, suggesting some degree of genetic transmission.[7] Poland syndrome has been associated with other syndromes, including Möbius syndrome (congenital bilateral facial paralysis with inability to abduct the eyes) and Klippel-Feil syndrome.[8] Hematopoietic malignancies, including leukemia and non-Hodgkin lymphoma, have been described in patients with Poland syndrome.

Etiology

Although several theories have been advanced to explain the etiology of Poland syndrome, most evidence indicates that it results from a vascular developmental anomaly during the critical sixth week of gestation, with hypoplasia of the subclavian artery causing musculoskeletal malformations. The critical vascular event, known as subclavian artery supply disruption sequence (SASDS), occurs when the medial and forward growth of the ribs forces the subclavian vessel into a U-shaped configuration. The specific region of vessel involvement dictates the clinical manifestation (ie, Poland syndrome, Möbius syndrome, Klippel-Feil syndrome), and more proximal occlusions result in more severe syndromes.

Presentation

Because the functional disability in Poland syndrome is mild, patients usually present later for evaluation and discussion on aesthetic options. Preoperative evaluation should include a thorough history and examination.[9]

During the examination, the stage of breast development and status of the latissimus dorsi muscle should be noted. The presence and development of the latissimus dorsi muscle can be determined with the provocative maneuver of downward strain by the patient with his or her hand on the hip. Furthermore, extraocular muscle motion must be confirmed in excluding an associated Möbius syndrome. Examination of lymph nodes and complete blood cell count should assist with evaluation for associated leukemia and non-Hodgkin lymphoma. Determining chest wall abnormalities and the presence of the latissimus muscle may require evaluation with CT scan.[10]

A literature review by Baas et al indicated that pectoral muscle hypoplasia alone should not be used to diagnose Poland syndrome, since it is not unique to this condition. The investigators looked at descriptions of 627 patients from studies of Poland syndrome and reported that although 29% of cases involved classic Poland syndrome, 57% of patients with a pectoral malformation and a hand malformation, as well as another deformity, were found to have at least one characteristic matching that of another syndrome.[11]

Indications

Patients with Poland syndrome present for treatment of the chest deformity and breast asymmetry.[12] Three main determinants influence the timing and options for reconstruction: breast development, existence of a latissimus dorsi muscle, and degree of chest wall deformity.

If the breasts are not fully developed, use of autologous tissues for reconstruction is delayed until such time. During breast development, females may benefit from provisional breast reconstruction with tissue expansion. The hypoplastic breast can be expanded incrementally to match breast development on the unaffected side with a temporary tissue expander breast implant.[13] This helps stretch the contracted skin and potentially lowers the raised nipple in preparation for the latissimus flap reconstruction. Once the breasts are developed and the breast envelope is appropriately stretched, the latissimus muscle can be used with or without a permanent implant, depending on the desired size.[14, 15]

A patient with minor breast asymmetry may be a candidate for correction with a permanent implant expander. An implant expander has a port that can be used to incrementally fill the implant over time postoperatively until symmetry is achieved; the port is then removed through a separate incision and the implant is left in place permanently. The most popular breast implant expander is the Becker implant, which has silicone gel and is filled with saline.

In male patients, the chest deformity can be reconstructed with the latissimus dorsi muscle as early as age 13 years. When rib abnormalities are mild, reconstruction with the latissimus dorsi muscle affords satisfactory chest wall symmetry. However, if severe, associated rib abnormalities may need to be treated to optimize the eventual outcome.

Contraindications

Breast implants and expanders should not be placed in patients who are too young to maturely accept the responsibility of a foreign body and to have the ability to deal with the potential complications. Patients must be able to tolerate occasional expansion procedures. Remote port tissue expanders may be preferred for younger patients. Integrated port tissue expanders can be used in young patients with an increased risk of deflation because the actual implant can be punctured in attempting to access the port in a moving target.

 

Workup

Laboratory Studies

See the list below:

  • Examination of lymph nodes and a complete blood cell count should assist with evaluation for associated leukemia and non-Hodgkin lymphoma.

Imaging Studies

See the list below:

  • Determining chest wall abnormalities and the presence of the latissimus muscle may require evaluation with CT scan.[10]

  • A chest radiograph may be indicated to determine rib abnormalities or the presence of diaphragmatic hernia.

 

Treatment

Surgical Therapy

In female teenagers, abnormal breast development can influence the patient's psychological growth. However, if the reconstruction is performed too early, asymmetry may result with continued growth of the breasts. In this case, a secondary revision procedure may be required once breast development is completed, but this compromises the overall result. When the young female patient experiences intense anxiety associated with the breast deformity, one may consider early treatment with a temporary expander, planning for additional reconstruction once breast development has been completed.

During adolescence, a subcutaneous tissue expander can be placed in the affected side. The expander is placed in the subcutaneous plane, since the pectoralis muscle is absent. This expander can be inflated at intervals to rival or match the development of the unaffected breast. This expanded breast does not exactly match the uninvolved side but may help the patient look more symmetrical. Placement of the expander during breast development allows for expansion of the skin to accommodate the eventual permanent implant and latissimus muscle. Moreover, this expansion of the breast skin may enlarge the hypoplastic nipple-areola complex (NAC) often present in these patients. Tissue expansion also can correct the eccentric and elevated NAC observed in patients with Poland syndrome through strategic expander placement to lower it.[13] Tissue expansion can be performed with a pure temporary tissue expander that is eventually replaced with a permanent implant or with an permanent implant expander.

If the patient has mild breast asymmetry, breast reconstruction with an implant expander can be considered in a one-stage procedure. As described above, an implant expander is a permanent implant with a removable remote port. The implant expander can be incrementally expanded postoperatively until the desired size is achieved to match the other breast. Then, the port of the expander can be removed through a separate incision while the permanent implant is left in place. The most popular implant expander is the Becker implant, which contains silicone gel and saline. The saline component of this implant allows for adjustable expansion.

Occasionally, with long periods of implant inactivity between expansions, a capsule contracture may develop, which can restrict expansion. An open capsulotomy may be required to release the capsule and allow for further tissue expansion and or implant repositioning. Finally, upon completion of breast development (when the patient is aged 18-19 y), the tissue expander can be removed and the breast can be reconstructed with the latissimus muscle transposed over a permanent implant.

The latissimus muscle can be used to correct the absence of the axillary line, correct infraclavicular flattening, and provide subcutaneous filler to cover the edge of the implant, thus preventing or minimizing rippling. Occasionally, a de-epithelialized skin paddle may be required with the latissimus muscle to reconstruct the axillary line. If the nipple is absent the skin paddle of the latissimus muscle can be used to reconstruct a nipple, and the areola can be reconstructed with tattooing.

The latissimus muscle is harvested through a small axillary incision and a transverse incision in the back, which can be concealed in the bra line. The muscle is transposed anteriorly over the breast implant and sutured to the pectoralis fascia superiorly, medially, and inferiorly. The use of the latissimus is saved until the completion of breast development and tissue expansion; if used earlier over the tissue expander, the muscle is attenuated with expansion. If skin is required with muscle harvest, the back incision can be modified to recruit as much skin as needed, making sure to still be able to close the back primarily.

When striving to achieve breast symmetry at the final operation, treatment of the contralateral breast by reduction, mastopexy, or augmentation may be indicated. Furthermore, over time, the patient may develop a unilateral contracture to the breast prosthesis, resulting in loss of symmetry. Accordingly, long-term symmetry may be optimized by placement of an implant in the unaffected breast, as well. If the unaffected breast is excessively large, it may require a reduction or mastopexy as an adjunct to implant insertion.

If tissue expansion does not correct nipple-areola asymmetry, additional procedures may be needed to correct nipple and areolar size and location. Consider nipple-sharing composite grafts if the unaffected nipple is of adequate size, or consider nipple reconstruction with local flaps. Areolar discrepancies can be corrected with crescent excisions, strategic tattooing, or relocation by transposing through a new skin opening and skin closure of old location. These nipple-areolar reconstruction procedures are usually performed at a separate stage after the maturation from the initial reconstructive procedure.

If the latissimus is absent as part of the Poland syndrome complex, other options for reconstruction include free latissimus muscle from the unaffected side, the transverse rectus abdominus muscle (TRAM) flap, Rubens flap, gluteus maximus flap, thigh flap, or free perforator TRAM or gluteus flaps. Because thoracic vascular anomalies also can be encountered in patients with Poland syndrome, assessment of recipient vessels with duplex or angiogram is required.[2] Another described reconstructive option is a customized prosthetic implant for the chest wall placed under the breast implant.[16, 17, 18]

The TRAM flap should not be considered for those who intend to become pregnant. The gluteus and Rubens flaps have short pedicles, often requiring grafts for microanastomoses, and result in significant donor site asymmetry. In general, these other reconstructive options provide less aesthetically acceptable results than the latissimus muscle for coverage over the implant; however, treatment must be individualized.

For male patients with Poland syndrome who have an intact latissimus muscle, consider reconstruction when they are aged 12-13 years. The ipsilateral latissimus muscle is harvested through a small incision in the back and axilla and transposed to fill the void of the absent pectoralis major muscle. The latissimus is folded along the sternal and inferior borders to resemble the contour of the pectoralis major muscle. The humeral insertion of the latissimus muscle must be detached, anteriorly transposed, and sutured to the bicipital groove of the humerus. Reconstruction with prosthesis also has been described for males but with disappointing results. If the latissimus is absent on the affected side, the contralateral latissimus can be used as a free flap to the axillary or internal mammary vessels after appropriate evaluation for recipient vessels with duplex or angiogram. For more information, see Pectoral Implants.

Intraoperative Details

See Surgical Therapy.

Postoperative Details

Insertion of the tissue expander or single-stage implant expander is usually performed on an outpatient basis. The patient's follow-up care is initially for wound evaluation. Then, patients return at 2 weeks for possible suture removal and the initial expansion, if wound healing is suitable. Tissue expansion then is performed at weekly to biweekly intervals until the affected breast matches the contralateral side. The affected breast is expanded further as the unaffected breast grows.

Patients with moderate to severe abnormalities may require 2-stage reconstruction with the latissimus muscle over the permanent implant. The second procedure, involving expander exchange to permanent implant and latissimus muscle reconstruction, involves placement of drains in the donor site and breast pocket. An elastic wrap (eg, Ace) is used to minimize potential space at the donor site and risk of hematoma or seroma. Drain care can be performed at home. These drains are removed when outputs are less than 25 mL over 24 hours. Expansion exercises of the implants can usually be initiated at 1-4 weeks to minimize risk for capsule contracture.

A study by Manzano Surroca et al indicated that the use of free autologous fat grafts a year or more after breast implant surgery may improve reconstructive results in females with Poland syndrome. In the study, 6 females with the syndrome underwent free autologous fat grafting 11-18 months after receiving breast implants, with the contralateral breast also treated in order to improve symmetry and volume. The investigators concluded that fat grafting permits correction of the anterior axillary fold and improves the projection and symmetry of the breasts.[19]

Complications

Any of the complications described for breast reconstruction with implants and autogenous tissue can be experienced in the reconstruction of patients with Poland syndrome, including seroma[16] or hematoma around the implant, implant displacement, implant deflation, implant defect, implant infection, implant exposure, requirement for removal of implant, contracture, breast asymmetry immediate or late, progressive change in symmetry, drooping of the breasts, loss of feeling of the breast or nipple, need for displacement mammography, difficulty with breast cancer surveillance, galactorrhea, symmastia, difficulty with breast feeding, nipple asymmetry, rippling, contour abnormalities, inability to guarantee bra size, painful unattractive scarring, flap loss, muscle atrophy, latissimus donor site seroma and hematoma, back asymmetry from latissimustransposition, and need for additional revisions.[20, 21, 22]

Outcome and Prognosis

With appropriate timing, procedure selection, preoperative evaluation, and preoperative discussion to give appropriate expectations, excellent results and high patient satisfaction can be achieved in the treatment of chest and breast deformities resulting from Poland syndrome. Through the early use of tissue expansion, breast growth can be achieved to rival or match the normal development on the unaffected side. Tissue expansion prepares the breast envelope for the autogenous reconstruction and permanent implant and can sometimes improve nipple and areolar irregularities as well. Finally, upon completion of breast development, the latissimus muscle can be used to reconstruct the axillary line, reconstruct the infraclavicular hollow, and provide implant coverage.