Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study.

Abstract

This nationwide population-based study investigated the risk of death, infections, and hyperthermia in Danish patients with ectodermal dysplasia (ED). A validated cohort of ED patients (n = 396) and matched population comparators (n = 3960) was compared to assess these risks before (case-control analysis) and after ED diagnosis (cohort analysis). Using matched comparators as a reference, the overall hazard ratio (HR) for death was 1.33 (95% confidence interval [CI] 0.70-2.55) in ED patients, and particularly high in males with hypohidrosis (HR 3.77, 95% CI 1.57-9.03) and individuals diagnosed before age 18 (HR 6.53, 95% CI 1.84-23.13). ED was associated with an increased risk of hospital-diagnosed infections before (odds ratio [OR] 2.27, 95% CI 1.81-2.85) and after (HR 2.06, 95% CI 1.74-2.45) diagnosis, varying across subtypes. Sensitivity analyses supported these findings, e.g., using antimicrobial prescriptions to identify infections. An association between hypohidrosis and previous hyperthermia (OR 7.11, 95% CI 3.26-15.51) diminished after diagnosis (HR 1.38, 95% CI 0.54-3.53). This study found an increased mortality risk in males with hypohidrosis and those diagnosed in childhood, and infection and hyperthermia risks depending on ED subtype. These data enhance understanding of ED's clinical course, informing patient management and counselling.