Cause-specific risks of childhood death in inherited epidermolysis bullosa.
OBJECTIVE
To determine the cause-specific risks of death in children with epidermolysis bullosa (EB).


METHODS
Data were collected throughout the continental United States between 1986 and 2002 by the National EB Registry. The study design is cross-sectional (n = 3280), containing within it a nested randomly sampled longitudinal subcohort (n = 450).


RESULTS
The risk of death during infancy and childhood was greatest in junctional EB (JEB), with cumulative and conditional risks of 40% to 44.7% by age 1 in both JEB subtypes, rising to 61.8% in children with JEB, Herlitz subtype and 48.2% in those with JEB, non-Herlitz subtype (JEB-nH) by age 15. In decreasing order, sepsis, failure to thrive, and respiratory failure were the major causes of death in children with JEB, plateauing by age 2 to 6. A small minority of children with epidermolysis bullosa simplex, Dowling-Meara subtype was at risk for death by age 1 (cumulative risk, 2.8%), with sepsis and respiratory failure accounting for cumulative risks of 1.9% and 0.9%. Only a minority of children with recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens subtype was at risk of death (cumulative risk = 8% by age 15). Renal failure also rarely accounted for death in children with JEB-nH.


CONCLUSIONS
Infants and children with inherited EB, particularly those with JEB, are at significant risk of death as a result of disease complications.
Fine
Jo-David
JD
National Epidermolysis Bullosa Registry, Nashville, TN, USA.
Johnson
Lorraine B
LB
Weiner
Madeline
M
Suchindran
Chirayath
C
D000293:Adolescent; D000328:Adult; D000368:Aged; D002423:Cause of Death; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004820:Epidermolysis Bullosa / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000401:mortality*; D016108:Epidermolysis Bullosa Dystrophica / Q000401:mortality; D016110:Epidermolysis Bullosa Simplex / Q000401:mortality; D016109:Epidermolysis Bullosa, Junctional / Q000401:mortality; D005183:Failure to Thrive / Q000401:mortality; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008875:Middle Aged; D011014:Pneumonia / Q000401:mortality; D012042:Registries; D051437:Renal Insufficiency / Q000401:mortality; D012131:Respiratory Insufficiency / Q000401:mortality; D012306:Risk; D018805:Sepsis / Q000401:mortality; D016896:Treatment Outcome