🦶 Pachyonychia Congenita
Pachyonychia Congenita (PC) is a rare genetic disorder primarily affecting the skin and nails, characterized by thickened nails and painful skin on the palms and soles.
🔍 Causes
- Caused by mutations in keratin genes (KRT6A, KRT6B, KRT16, or KRT17)
- Inherited in an autosomal dominant pattern
⚠️ Symptoms
- Thickened, discolored, and sometimes painful fingernails and toenails (onychogryphosis)
- Painful calluses and blisters on palms and soles (palmoplantar keratoderma)
- Oral leukokeratosis (white patches inside the mouth)
- Cysts or follicular keratosis (bumps around hair follicles)
- Excessive sweating (hyperhidrosis)
🧪 Diagnosis
- Clinical evaluation of symptoms
- Genetic testing to confirm mutations
🛠️ Treatment
- Symptom management; no cure
- Regular nail care and trimming
- Use of emollients and keratolytics to soften thickened skin
- Pain management
- Sometimes surgery for painful lesions
- Genetic counseling for affected families