Diagnosis: Pachyonychia Congenita
A 12-year-old female presenting with thickened, dystrophic nails since infancy and painful plantar keratoderma limiting ambulation.
Marked hypertrophy and upward curvature of all fingernails and toenails with a tubular, pincer-like morphology. Palmoplantar keratoderma with thick calluses on pressure points. Oral leukokeratosis on buccal mucosa. Follicular keratoses on elbows and knees.
Nail changes noted at birth with progressive thickening. Plantar pain developed by age 5, worsening with growth. Mother and maternal grandmother have similar nail findings. Previous genetic testing confirmed KRT6A mutation consistent with PC-1 (Jadassohn-Lewandowsky type).
Mechanical debridement of hyperkeratotic nails. Topical keratolytics (urea 40% cream) for plantar keratoderma. Custom orthotics to redistribute pressure. Genetic counseling provided. Referral to PC Project registry for potential sirolimus trial eligibility.
• Onychomycosis • Psoriatic nail dystrophy • Palmoplantar keratoderma (other types) • Darier disease (nail involvement) • Lichen planus (nail) • Nail-patella syndrome
• Rare autosomal dominant genodermatosis caused by keratin mutations (KRT6A, KRT6B, KRT6C, KRT16, KRT17) • Hallmark features: severe nail dystrophy (subungual hyperkeratosis), painful plantar keratoderma • Formerly classified as PC-1 (Jadassohn-Lewandowsky) and PC-2 (Jackson-Lawler) • Now classified by genotype (PC-K6a, PC-K6b, PC-K6c, PC-K16, PC-K17) • Plantar pain can be debilitating — often the most significant quality-of-life issue • Oral retinoids may thin keratoderma but side effects limit use • Ongoing research into siRNA and gene therapy • International Pachyonychia Congenita Consortium (IPCC) is the key resource for patients and clinicians
Tags: genodermatosis, nail disease, keratoderma, rare disease, pediatric