Pachyonychia congenita: a research agenda leading to new therapeutic approaches

EA O'Toole, DP Kelsell, MJ Caterina, M de Brito… - Journal of Investigative …, 2024 - Elsevier
Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC
stands out among other genodermatoses because despite its rarity, it has been the focus of …

Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment

AG Zieman, PA Coulombe - British Journal of Dermatology, 2020 - academic.oup.com
Background Pachyonychia congenita (PC), a rare genodermatosis, primarily affects
ectoderm‐derived epithelial appendages and typically includes oral leukokeratosis, nail …

Challenges in treating genodermatoses: new therapies at the horizon

MA Morren, E Legius, F Giuliano… - Frontiers in …, 2022 - frontiersin.org
Genodermatoses are rare inherited skin diseases that frequently affect other organs. They
often have marked effects on wellbeing and may cause early death. Progress in molecular …

Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature

C Bodemer, P Steijlen… - British Journal of …, 2021 - academic.oup.com
Background No specific or curative therapy exists for hereditary palmoplantar keratoderma
(hPPK), which can profoundly alter patient quality of life, leading sometimes to severe …

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review

S Biglari, AS Moghaddam, MA Tabatabaiefar… - Genetics in …, 2024 - Elsevier
Purpose Persistent human papillomavirus infection (PHPVI) causes cutaneous, anogenital,
and mucosal warts. Cutaneous warts include common warts, Treeman syndrome, and …

Treatment of painful palmoplantar keratoderma related to pachyonychia congenita using EGFR inhibitors

C Greco, AC Ponsen, S Leclerc-Mercier, J Schlatter… - Biomedicines, 2022 - mdpi.com
Pachyonychia congenita (PC) is a genodermatosis associated with severe painful
palmoplantar keratoderma (PPK) and thickened dystrophic nails caused by autosomal …

Pain mechanisms in hereditary palmoplantar keratodermas

RL Weinberg, PA Coulombe… - British Journal of …, 2020 - academic.oup.com
Summary Background Palmoplantar keratodermas (PPKs) are a heterogeneous group of
skin disorders characterized by thickening of the epidermis on the palms of the hands and …

A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of …

J Liang, R Li, C Liu, Y Cai, Y Liu, P Chen, K Zeng, C Li - Heliyon, 2024 - cell.com
Pachyonychia congenita is an uncommon autosomal dominant skin disorder characterized
by hypertrophic nail dystrophy, palmoplantar keratoderma, oral leukokeratosis, and …

Distinctions in the management, patient impact, and clinical profiles of pachyonychia congenita subtypes

AG Wu, SR Lipner - Skin Appendage Disorders, 2021 - karger.com
Introduction: Pachyonychia congenita (PC) is a rare dermatosis that confers lifelong physical
and emotional morbidities in affected patients. However, the clinical findings, treatments …

Pachyonychia congenita–pathogenesis of pain and approaches to treatment

RL McCarthy, M de Brito… - Clinical and Experimental …, 2024 - academic.oup.com
Pachyonychia congenita is an autosomal dominant genodermatosis characterized by a triad
of chronic severe plantar pain, focal palmoplantar keratoderma, and hypertrophic nail …