Poland Syndrome

Updated: Feb 22, 2016
  • Author: Bradon J Wilhelmi, MD; Chief Editor: James Neal Long, MD, FACS  more...
  • Print
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.

Next:

Problem

Poland syndrome can present with ipsilateral involvement of the chest muscles, skin and subcutaneous tissues, bones, and upper extremity. [1, 2] 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%]. [3] ) 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.

The classic ipsilateral features of Poland syndrome include the following:

  • 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
Previous
Next:

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. 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. Hematopoietic malignancies, including leukemia and non-Hodgkin lymphoma, have been described in patients with Poland syndrome.

Previous
Next:

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.

Previous
Next:

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. [4]

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. [5]

Previous
Next:

Indications

Patients with Poland syndrome present for treatment of the chest deformity and breast asymmetry. [6] 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. [7] 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. [8, 9]

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.

Previous
Next:

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.

Previous