Diagnosis: Case description: 7 yo female. Increasing nail dystrophy since birth. Mild focal plantar keratoderma. No family history. Diagnosis: pachyonychia congenita (PC), a group of rare autosomal dominant cond
Social Rounds Feature from social media! Social Rounds is where we feature interesting and educational cases on social media. Discover new cases and profiles you should follow too! This case came across the wires on Instagram – Follow @globaldermie who recently posted this most interesting case! Diagnosis: Pachyonychia congenita Case description: 7 yo female. Increasing nail dystrophy [ ]
Social Rounds Feature from social media! Social Rounds is where we feature interesting and educational cases on social media. Discover new cases and profiles you should follow too! This case came across the wires on Instagram – Follow @globaldermie who recently posted this most interesting case! Diagnosis: Pachyonychia congenita Case description: 7 yo female. Increasing nail dystrophy since birth. Mild focal plantar keratoderma. No family history. Diagnosis: pachyonychia congenita (PC), a group of rare autosomal dominant conditions with characteristic nail dystrophy, in association with painful plantar keratoderma. Traditionally classified into Type 1 and Type 2, according to clinical features, but classification now depends on which keratin gene has the specific mutation: K6a, K16, K17, K6b and K6c. Nearly 100 mutations described by the International PC Research Registry. No family history in many patients, due to sporadic mutations during conception. PC affects skin (especially pa
Severe nail thickening and dystrophy present from infancy. Painful plantar keratoderma. Family history consistent with autosomal dominant inheritance. Follicular hyperkeratosis, oral leukokeratosis may be present.
Supportive: regular nail trimming, mechanical debridement of keratoderma. Emollients and keratolytics. Oral retinoids (limited benefit, side effects). Pain management for plantar keratoderma. Genetic counseling. Clinical trials for siRNA therapy.
• 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: dermatologist, dermatology