Genotype-phenotype correlations of neurovascular structures on the feet in patients with pachyonychia congenita: A cross-sectional study

Abstract

To the Editor: Pachyonychia congenita (PC) is a rare skin disorder caused by an autosomal dominant mutation in 1 of 5 keratin genes. In the diagnostic triad of PC, plantar pain has the most significant impact on the quality of life.1,2 A potential contributor to this pain is the development of putative neurovascular structures (NVSs), previously referred to as “capillary thromboses,” a feature identified through a patient-focused drug development meeting with the Food and Drug Administration.3 NVSs in patients with plantar keratoderma are characterized by 1-2–mm blood-red or dark-red spots, occurring alone or in clusters, with associated extreme pain, suggesting the presence of an adjacent nerve.