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Poland Syndrome

Posted on Mar 18, 2016 at

Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.

People with Poland syndrome are typically missing part of one of the major chest muscles, called the pectoralis major. In most affected individuals, the missing part is the large section of the muscle that normally runs from the upper arm to the breastbone (sternum). The abnormal pectoralis major muscle may cause the chest to appear concave. In some cases, additional muscles on the affected side of the torso, including muscles in the chest wall, side, and shoulder, may be missing or underdeveloped. There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement.

Many people with Poland syndrome have hand abnormalities on the affected side, commonly including an underdeveloped hand with abnormally short fingers (brachydactyly); small, underdeveloped (vestigial) fingers; and some fingers that are fused together (syndactyly). This combination of hand abnormalities is called symbrachydactyly. Some affected individuals have only one or two of these features, or have a mild hand abnormality that is hardly noticeable; more severe abnormalities can cause problems with use of the hand. The bones of the forearm (radius and ulna) are shortened in some people with Poland syndrome, but this shortening may also be difficult to detect unless measured.

Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention.

Diagnostic Workup includes:

Imaging Studies

See the list below:

  • Determining chest wall abnormalities and the presence of the latissimus muscle may require evaluation with CT scan.
  • A chest radiograph may be indicated to determine rib abnormalities or the presence of diaphragmatic hernia.:

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.[6] 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.

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. 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.

In males pectoral implants may be an option for reconstruction especially in milder cases. Another option for patients with mild deformity of their chest wall is autologous fat transfer where the patient’s own fat harvested typically from the abdomen or flanks is injected into the chest concavity. Both implants and fat transfers are options which are available for the right patient but generally reconstruction with a latissimus muscle flap provides the most durable and natural result.

To inquire more please call our office so that we can discuss your particular situation and help answer your questions.

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