About Pachyonychia Congenita
Pachyonychia congenita is an ultrarare autosomal dominant keratin disorder caused by heterozygous mutations in one of four keratin genes — KRT6A, KRT6B, KRT16, or KRT17 — which encode keratins expressed in nail bed, palmoplantar epidermis, and oral mucosa. The hallmark feature is severe, wedge-shaped hypertrophic nail dystrophy present from birth or early infancy, accompanied by highly debilitating plantar keratoderma that causes extreme pain with weight-bearing and is considered the greatest determinant of quality of life impairment. The International Pachyonychia Congenita Research Registry (IPCRR) has been instrumental in characterising the natural history of this condition.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Pachyonychia Congenita trials.
The PC Project maintains the International Pachyonychia Congenita Research Registry (IPCRR) — enrolment in the registry is often a prerequisite for or facilitates entry into sponsored trials.
Eligibility frequently requires genotypic subtyping (PC-6A, PC-6B, PC-16, PC-17 based on gene affected) — confirm which keratin gene is mutated and obtain the exact variant notation.
Pain severity scoring (VAS or NRS) and plantar keratoderma grading are standard outcome measures; document baseline plantar pain levels and impact on ambulation before screening visits.
Patient Resources
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