What is the management approach for Poland syndrome?

Management of Poland Syndrome

Poland syndrome is a rare congenital anomaly characterized by unilateral chest wall hypoplasia with pectoralis major muscle agenesis/hypoplasia as the cardinal feature, often accompanied by breast, nipple-areola complex, and upper limb abnormalities. A multidisciplinary approach with coordinated care from specialists experienced with rare developmental disorders is essential for optimal management of patients with Poland syndrome.

Clinical Features and Classification

• Poland syndrome presents with a spectrum of deformities involving the chest/rib cage, breast bud, nipple-areola complex, upper limb, and surrounding tissues 1
• The pathognomonic feature is unilateral pectoralis major muscle agenesis or hypoplasia 2
• Classification systems help guide treatment:
  • Foucras classification: Class I (isolated muscle defect), Class II (muscle defect with chest wall deformity), Class III (complex deformity with rib and sternal involvement) 1
  • TBN classification: Thorax (T1-T4), Breast (B1-B2), and Nipple-areola complex (N1-N3) 2
• Males are more frequently affected than females, with the right side more commonly involved 3

Initial Evaluation

• Complete physical examination to identify all associated anomalies 4
• Assessment of chest wall deformity, breast/nipple abnormalities, and upper limb involvement 2
• Evaluation of functional limitations and psychological impact 5
• Genetic counseling to explain etiology and recurrence risk 4

Multidisciplinary Management Team

• Plastic surgeons for chest wall and breast reconstruction 1
• Orthopedic surgeons for hand/upper limb abnormalities 3
• Thoracic surgeons for severe chest wall deformities 2
• Psychologists for body image concerns and psychological support 5
• Geneticists for evaluation and counseling 4

Surgical Management

Timing of Surgery

• Early intervention should be considered during the period of growth to allow proper body image stabilization 5
• Traditional approach of postponing surgery until physical development is achieved may lead to body image disorders 5
• Hand surgery (for syndactyly) is typically initiated by age one and completed before school entry 3

Surgical Options for Chest/Breast Reconstruction

• Fat grafting (45% of cases) - less invasive option suitable for milder deformities 1
• Latissimus dorsi muscle flap (55% of cases) - traditional approach for more severe deformities 1
• Tissue expanders followed by implants - particularly for N2 and N3 cases in the TBN classification 2
• Minimally invasive techniques including videoendoscopic latissimus dorsi muscle harvesting 6
• Surgical approach should be tailored based on:
  • Classification of deformity (Foucras or TBN) 1, 2
  • Patient's age and sex 2
  • Severity of chest wall and breast involvement 1

Hand Surgery

• Separation of syndactyly is recommended to improve function and appearance 3
• In some cases, digit removal to produce a three-fingered hand may be considered 3
• Multiple revisions may be necessary as the child grows 3

Psychological Support and Follow-up

• Behavioral health assessment reveals appearance concerns (87%), clothing challenges (47%), and pain (20%) as primary psychosocial stressors 1
• Regular follow-up with the multidisciplinary team is essential 4
• Psychological support should address body image disorders, which are common in patients with chest wall deformities 5
• Long-term follow-up is necessary to monitor outcomes and address complications 1

Potential Complications

• Surgical complications include seroma, wound dehiscence, infection, and implant-related issues 1
• Higher Foucras classification correlates with a higher number of surgical procedures and potentially more complications 1
• Inadequate psychological support may lead to persistent body image disorders despite surgical correction 5

Special Considerations

• Patient education and expectation management are crucial for improved outcomes 1
• Family support resources should be provided to help manage complex care needs 4
• Transition planning from pediatric to adult care services is necessary for long-term management 4

The management of Poland syndrome requires careful consideration of both immediate and long-term goals while accounting for physical development and psychological maturity. A patient-centered approach focusing on functional improvement and psychological well-being is essential for optimal outcomes.