Facial Asymmetry: Parry-Romberg Syndrome and Localized Cranial Scleroderma
Parry-Romberg Syndrome (PRS)
Epidemiology
- PRS is a rare neurocutaneous and craniofacial disorder with an estimated prevalence of 1 in 700,000 individuals 1
- Predominantly affects children and young adults 1
- More common in females than males 2
Etiology and Pathophysiology
- The exact etiology remains unknown, though autoimmune, genetic, and vascular factors are likely contributors 1
- Possible primary cause attributed to cerebral disturbance of fat metabolism 3
- Often overlaps with "en coup de sabre" morphea, with an ill-defined relationship between the two conditions 3, 4
Clinical Presentation
- Progressive hemifacial atrophy affecting one side of the face 1, 5
- Characterized by unilateral wasting and atrophy of skin, subcutaneous tissue, muscles, and sometimes extending to osteocartilaginous structures 6
- Typically begins in childhood and progresses for a variable period (2-10 years) before stabilizing 5
- Clinical features include:
Diagnostic Workup
- Comprehensive clinical evaluation with referral to specialized centers 2
- Imaging studies:
- Skin biopsy when diagnostic uncertainty exists 2
Treatment
- Multidisciplinary approach involving dermatologists, plastic surgeons, neurologists, ophthalmologists, and dental specialists 1
- Medical management:
- Surgical interventions:
- Non-surgical modalities:
Monitoring
- Regular clinical assessment using standardized tools 2
- Ophthalmological follow-up for all patients, especially those with facial and scalp lesions 2
- Monitoring for medication side effects 2
Localized Cranial Scleroderma (Linear Scleroderma)
Epidemiology
- Incidence of juvenile localized scleroderma is approximately 3.4 cases per million children per year 2
- Female to male ratio of 2.4:1 2
- Mean age of onset is 7.3 years 2
- Linear scleroderma is the most common subtype in children 7
Etiology and Pathophysiology
- Autoimmune process affecting skin and subdermal tissues 7
- Characterized by excessive collagen deposition leading to fibrosis 7
- Classified into five subtypes: circumscribed morphea, linear scleroderma, generalized morphea, pansclerotic morphea, and mixed subtype 7
Clinical Presentation
- Linear sclerotic plaques that may appear as "en coup de sabre" 2
- Active inflammatory lesions with skin changes including hyperpigmentation and induration 2
- May involve the scalp leading to alopecia 2
- Can affect underlying tissues including muscles and bones 7
- Extracutaneous manifestations may include:
Diagnostic Workup
- Standardized assessment tools such as the Localized Scleroderma Cutaneous Assessment Tool (LoSCAT) to evaluate disease activity (LoSSI) and damage (LoSDI) 2
- MRI of the head for patients with facial and head involvement 2
- Ophthalmological assessment including screening for uveitis at diagnosis 7
- Skin biopsy when diagnosis is uncertain 2
Treatment
- First-line systemic therapy for active, potentially disfiguring forms is methotrexate at 15 mg/m²/week combined with systemic corticosteroids during the initial inflammatory phase 7, 2
- Methotrexate should be maintained for at least 12 months after achieving clinical improvement before tapering 7, 2
- Mycophenolate mofetil for severe cases or methotrexate-refractory or intolerant patients 7
- Medium-dose UVA1 phototherapy may be used to improve skin softness in isolated (circumscribed) morphea lesions 7
- Topical imiquimod may be used to decrease skin thickening of circumscribed morphea 7
Monitoring
- Regular clinical assessment using LoSCAT to monitor disease activity and response to treatment 7, 2
- Ophthalmological follow-up, including screening for uveitis 7
- Monitoring for methotrexate side effects 2
Relationship Between PRS and Localized Cranial Scleroderma
Similarities
- Both conditions can affect the face and head with progressive tissue changes 3, 4
- Both may have neurological manifestations 6, 7
- Similar treatment approaches with immunosuppressive medications 2
- Both conditions typically begin in childhood 2, 5
Differences
- PRS primarily involves atrophy of tissues without preceding inflammation in many cases 1
- Localized scleroderma typically presents with inflammation and sclerosis before atrophy 7
- PRS has more pronounced involvement of deeper structures including muscles and bones 1
- Localized scleroderma often presents with more distinct skin changes (induration, hyperpigmentation) 2
Overlapping Features
- "En coup de sabre" morphea can coexist with PRS 3, 4
- Some cases show features of both conditions, suggesting they may be part of a disease spectrum rather than distinct entities 4
- Neurological and ophthalmological complications can occur in both conditions 7, 6
Management Approach for Both Conditions
Diagnostic Algorithm
- Clinical evaluation of facial asymmetry and skin changes 2
- Standardized assessment tools (LoSCAT) to evaluate disease activity and damage 2
- Imaging studies (MRI, CT) to assess extent of involvement 2, 1
- Ophthalmological assessment 7
- Skin biopsy when diagnosis is uncertain 2
Treatment Algorithm
- For active disease: Methotrexate (15 mg/m²/week) plus systemic corticosteroids 7, 2
- Maintain methotrexate for at least 12 months after clinical improvement 7, 2
- For refractory cases: Switch to mycophenolate mofetil 7, 2
- For cosmetic and functional rehabilitation after disease stabilization: Consider surgical interventions 1
- Regular monitoring using standardized assessment tools 2