Management of Pachyonychia Congenita
Pachyonychia congenita (PC) requires a multifaceted symptomatic approach focused on mechanical callus reduction, pain management, and nail care, as there is currently no curative treatment for this rare autosomal dominant keratin disorder. 1, 2
Core Clinical Features
PC is caused by mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17) and presents with a characteristic triad: 2
- Painful plantar keratoderma (focal calluses causing debilitating pain) 3, 2
- Hypertrophic nail dystrophy affecting all nails 2
- Oral leukokeratosis and various epidermal cysts 2
The plantar pain is the most debilitating feature, profoundly impacting quality of life and requiring aggressive management. 3
Mechanical Management (First-Line)
Regular mechanical debridement is the cornerstone of management: 4
- Frequent callus reduction through trimming, paring, filing, or grinding of plantar keratoderma 4
- Nail filing, grinding, or clipping to manage hypertrophic nail dystrophy 4
- Comfortable, well-fitting footwear that protects without being restrictive 5
- Cushioned insoles or orthotics to redistribute pressure away from painful calluses 4
Topical Therapies
Keratolytics and emollients provide limited but worthwhile benefit: 4
- Salicylic acid or urea-based preparations to soften calluses 4
- Regular moisturizers applied to affected areas 4
- High-potency topical corticosteroids for inflammatory components 5
These agents soften the skin but do not eliminate the underlying hyperkeratosis. 4
Systemic Retinoids (Selective Use)
Oral retinoids help thin calluses in some patients but may paradoxically increase pain: 3, 4
- Consider trial in patients with severe keratoderma 4
- Monitor closely for increased pain, which occurs in a subset of patients 4
- Discontinue if pain worsens despite callus reduction 4
This paradoxical pain response limits retinoid utility and has driven research into alternative approaches. 4
Emerging Therapies
Rosuvastatin shows promise based on case report evidence: 6
- One patient with KRT6A mutation achieved 3.6-mm reduction in plantar callosity thickness by sonography 6
- Significant pain relief allowed increased physical activity 6
- Children's Dermatology Life Quality Index score dropped nine points 6
While this represents only single-patient data, the long-term safety profile of statins makes this a reasonable consideration for refractory cases. 6
Pain Management Strategy
Pain control requires a layered approach: 3
- Lifestyle modifications including activity pacing and weight management 3
- Mechanical techniques as described above 3
- Analgesics as needed for breakthrough pain 3
- Physical therapy to maintain mobility despite pain 3
Nail-Specific Management
For hypertrophic nail dystrophy: 5, 4
- Regular professional nail care to prevent trauma 5
- Avoid cutting nails too short 5
- Keep nails dry to prevent secondary infections 5
- Consider partial nail avulsion only for severe cases causing significant pain 5
Critical Pitfalls to Avoid
Do not overlook secondary infections: Up to 25% of nail cases develop bacterial or fungal superinfection requiring targeted antimicrobial therapy. 5
Do not assume all keratodermas respond identically: PC has distinct pathogenesis and may not respond to treatments effective for other plantar keratodermas. 4
Do not continue retinoids if pain worsens: Some patients experience increased pain despite callus thinning, requiring discontinuation. 4
Future Directions
Ongoing research focuses on siRNA therapy, gene correction, and small molecule strategies targeting the underlying keratin mutations, though none are currently available for clinical use. 1, 2 The Pachyonychia Congenita Project has accelerated development pathways from gene identification to clinical trials, serving as a model for other rare diseases. 2
Quality of Life Considerations
Psychological support is essential: The chronic severe pain and visible nail/skin changes significantly impact quality of life, requiring comprehensive psychosocial support beyond medical management. 7, 3