A cross-sectional study of erythromelalgia in patients with pachyonychia congenita.

This article presents the findings of a study that investigated the prevalence and genetic predictors of erythromelalgia in individuals with pachyonychia congenita (PC), a rare genetic disorder. The study involved sending an online survey to participants enrolled in the International Pachyonychia Congenita Research Registry (IPCRR) and analyzing their responses. The results showed that approximately 23% of participants met the diagnostic criteria for erythromelalgia, a condition characterized by burning pain and redness in the extremities. There was no association found between the presence of erythromelalgia and the specific genotype of PC. Participants with higher erythromelalgia scores reported higher levels of pain and experienced greater difficulty with daily activities. The study suggests that further understanding of erythromelalgia in PC may contribute to the development of effective treatments. However, the study acknowledges limitations such as incomplete response rates and small sample sizes in certain subgroups. [Extracted from the article]