PACHYONYCHIA CONGENITA

Diagnosis: PACHYONYCHIA CONGENITA

Case submitted by Dr.Azeem Alam Khan to the dermRounds community.

Clinical Presentation

Clinical photograph(s) submitted for peer review and discussion.

Clinical History

Submitted by Dr.Azeem Alam Khan. Originally posted May 13, 2009.

Treatment

See case discussion.

Differential Diagnosis

• Onychomycosis • Psoriatic nail dystrophy • Palmoplantar keratoderma (other types) • Darier disease (nail involvement) • Lichen planus (nail) • Nail-patella syndrome

Key Learnings

• 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: pachyonychia, congenita, dr.azeem alam khan