Clinical Characterization of Pediatric Erythromelalgia: A Single-Center Case Series.

Erythromelalgia is a descriptive term for severe burning pain and erythema in the distal extremities relieved by cold and exacerbated by heat. Pediatric case series to date are relatively small. We extracted and analyzed medical record data for 42 pediatric patients to describe clinical characteristics, associated conditions, and responses to treatments. Informed consent was obtained according to an IRB-approved protocol that included gene discovery. Three patients had confirmed Nav1.7 sodium channelopathies, with six additional patients under investigation with novel gene candidates. There was a female predominance (2.5:1), and the median onset age was 12 years (IQR = 3-14). Patients saw a median of three specialists (IQR = 2-3) for a diagnosis. The majority (90%) reported bilateral symptoms. Cooling methods usually provided partial relief, while heat and exercise exacerbated pain. No medication appeared to be consistently effective; commonly prescribed medications included sodium channel blockers (n = 37), topical analgesics (n = 26), gabapentin (n = 22), and aspirin (n = 15). Based on the currently published literature, we believe this cohort is the largest pediatric study of erythromelalgia to date. Many findings are consistent with those of previously published case series. Work is in progress to establish a prospective cohort and multi-center registry.

Intersection of Sex and Depression: Pathogenesis, Presentation, and Treatments.

Major Depressive Disorder (MDD) is a highly prevalent, debilitating disorder. According to the World Health Organization, approximately 5% of adults suffer from depression worldwide and more women than men are affected. Yet, we have a very limited understanding of the pathogenesis of the disease, how sex and genetics influence the pathophenotype of MDD, and how they contribute to the responses to pharmacological treatment. This chapter addresses key theories about the etiology of depression, the variations in epidemiology and presentation, and the treatment options with respect to sex and gender. Additionally, we discuss the emerging wave of treatment modalities, diagnosis, and research focusing on MDD.