Parkes-Weber Syndrome
Parkes-Weber Syndrome (PWS)
Introduction
Parkes-Weber syndrome is a rare congenital vascular malformation characterized by the presence of multiple arteriovenous fistulas (AVFs) associated with soft tissue and skeletal hypertrophy of an extremity.
Key Points
- Rare genetic disorder affecting vascular development
- Characterized by triad of:
- Capillary malformation (port-wine stain)
- Venous and lymphatic malformations
- Arteriovenous malformations (AVMs)
- Associated with limb overgrowth
- High-flow vascular malformation
- Usually affects a single limb
Clinical Features
Primary Manifestations
- Cutaneous Features:
- Port-wine stain (capillary malformation)
- Warm, pink-to-red in color
- Usually present at birth
- Progressive darkening with age
- Limb Manifestations:
- Progressive limb hypertrophy
- Length and girth increase
- Affected limb is warmer
- Visible superficial veins
- Palpable thrill
- Audible bruit
Secondary Features
- Chronic venous insufficiency
- Lymphedema
- Skeletal changes:
- Bone elongation
- Cortical thickening
- Joint involvement
- Neurological symptoms:
- Pain
- Paresthesias
- Motor dysfunction
Pathophysiology
Genetic Basis
- RASA1 gene mutations (chromosome 5q13.3)
- Autosomal dominant inheritance
- Affects RAS/MAPK signaling pathway
- Results in abnormal vascular development
- Associated with CM-AVM syndrome
Vascular Changes
- Multiple arteriovenous communications
- Increased blood flow leading to:
- Tissue hypertrophy
- Vascular steal phenomenon
- Venous hypertension
- Lymphatic dysfunction
Diagnosis
Clinical Evaluation
- Detailed physical examination
- Growth measurements
- Vascular assessment:
- Pulse examination
- Temperature difference
- Auscultation for bruits
Imaging Studies
- Doppler Ultrasound:
- Assessment of blood flow
- Identification of AVMs
- Monitoring progression
- MRI/MRA:
- Gold standard for diagnosis
- Delineation of vascular malformations
- Assessment of tissue involvement
- Surgical planning
- Angiography:
- Detailed vascular mapping
- Pre-intervention planning
- Identification of feeding vessels
Differential Diagnosis
- Klippel-Trenaunay Syndrome
- Low-flow malformations
- No arteriovenous fistulas
- Proteus Syndrome
- CLOVES Syndrome
- Sturge-Weber Syndrome
- Isolated Arteriovenous Malformations
Management
Multidisciplinary Approach
- Team Members:
- Vascular specialists
- Interventional radiologists
- Plastic surgeons
- Pediatric specialists
- Physical therapists
- Pain specialists
Treatment Options
- Conservative Management:
- Compression therapy
- Pain management
- Physical therapy
- Regular monitoring
- Interventional Procedures:
- Embolization of AVMs
- Sclerotherapy
- Laser therapy for cutaneous lesions
- Surgical Interventions:
- AVM resection
- Debulking procedures
- Limb reconstruction
- Amputation (in severe cases)
Complications
- Cardiovascular:
- High-output cardiac failure
- Thromboembolism
- Local Complications:
- Chronic pain
- Bleeding
- Ulceration
- Recurrent infections
- Growth discrepancy
- Functional Impairment:
- Limited mobility
- Joint deformities
- Muscle weakness
Special Considerations
Monitoring
- Regular clinical assessment:
- Growth measurements
- Cardiovascular status
- Pain assessment
- Imaging surveillance
- Quality of life assessment
Pregnancy Considerations
- Increased risk during pregnancy
- Close monitoring required
- Potential for progression
Disclaimer
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