Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry.
OBJECTIVE
To accurately determine the frequency with which complications arise in the ears, noses, and throats of patients with inherited epidermolysis bullosa (EB) as well as the cumulative risk of tracheolaryngeal stenosis or stricture.


METHODS
Cross-sectional study (3,280 patients) with a nested, randomly sampled longitudinal subcohort (n=450), representing data collection, stratified by major EB subtype, of the National EB Registry, an epidemiologic project focused on enrolling all EB patients within the continental United States from 1986 to 2002, to permit generalization of findings to the entire American EB population.


METHODS
Systematic epidemiologic case finding and data collection were performed throughout the continental United States, followed by subclassification of patients by EB subtype. ENT complications were quantified via contingency tables (as frequencies) and lifetable analyses. Frequencies of surgical procedures were also determined.


RESULTS
The most important clinical ENT complication in inherited EB was tracheolaryngeal stenosis or stricture, arising during early childhood and primarily within infants and children with junctional EB (JEB) (cumulative risk of 39.8% and 12.8% in Herlitz and non-Herlitz JEB, respectively, by ages 6 and 9). Other uncommon complications included chronic otitis media, chronic otitis externa, and hearing loss.


CONCLUSIONS
Given the potential risk for sudden airway occlusion and death, meticulous surveillance by a pediatric otolaryngologist is a critical part of the overall management of infants and children with EB, especially those with JEB and two rare subtypes of generalized EB simplex. Elective tracheostomy should be considered in EB infants and children with evidence of airway embarrassment.
Fine
Jo-David
JD
National Epidermolysis Bullosa Registry, Nashville, Tennessee 37203, USA. Jo-David.Fine@vanderbilt.edu
Johnson
Lorraine B
LB
Weiner
Madeline
M
Suchindran
Chirayath
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D004820:Epidermolysis Bullosa / Q000150:complications / Q000453:epidemiology / Q000235:genetics; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007829:Laryngostenosis / Q000453:epidemiology* / Q000209:etiology* / Q000601:surgery; D008297:Male; D008875:Middle Aged; D010032:Otitis Externa / Q000453:epidemiology / Q000601:surgery; D010033:Otitis Media / Q000453:epidemiology; D013517:Otorhinolaryngologic Surgical Procedures / Q000706:statistics & numerical data; D010254:Paranasal Sinus Diseases / Q000453:epidemiology / Q000601:surgery; D015995:Prevalence; D012042:Registries; D012307:Risk Factors; D014135:Tracheal Stenosis / Q000453:epidemiology* / Q000209:etiology* / Q000601:surgery; D014481:United States / Q000453:epidemiology