eMedicine Specialties > Plastic Surgery > Breast

Breast, Poland Syndrome

Author: Bradon J Wilhelmi, MD, Endowed Leonard Weiner, MD, Professor and Chief of Division of Plastic Surgery, Residency Program Director, University of Louisville School of Medicine
Coauthor(s): Paige Bryant Cornette, MD, Staff Physician, Department of Plastic Surgery, Southern Illinois University School of Medicine; Michael Neumeister, MD, FRCSC, FACS, Program Director, Assistant Professor, Department of Surgery, Division of Plastic Surgery, Southern Illinois University School of Medicine
Contributor Information and Disclosures

Updated: Jun 28, 2006

Introduction

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, 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, 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. 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 the 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 nipple is often smaller and higher in both males and females and the breast is generally hypoplastic in females.

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, termed Sprengel deformity. 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 also can 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
• Hypoplasia and/or aplasia of breast or nipple
• 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, infraspinatus, and supraspinatus muscles
• Total absence of anterolateral ribs and herniation of lung
• Symphalangism with syndactyly and hypoplasia or aplasia of the middle phalanges

Frequency

Poland syndrome is uncommon but not rare. While plastic surgeons encounter more females than males with this deformity (because they 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.

Etiology

Although several theories have been advanced to explain the etiology of Poland syndrome, most evidence indicates that it results from a vascular event 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.

During the examination, note the stage of breast development and status of the latissimus dorsi muscle. The development of the latissimus dorsi muscle can be ascertained 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. Chest wall abnormalities and determining the presence of the latissimus muscle may require evaluation with CT scan.

Indications

Patients with Poland syndrome present for treatment of the chest deformity and breast asymmetry. 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. Once the breasts are developed, the latissimus muscle can be used.

In males, 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 should 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. Integrated port tissue expanders should not be used in young patients because the expander can be deflated in attempting to access the port in a moving target.

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