Assuntos
Bandagens , Epidermólise Bolhosa Simples/tratamento farmacológico , Epidermólise Bolhosa Simples/genética , Queratina-5/genética , Silicones/uso terapêutico , Adulto , Índice de Apgar , Vesícula , Epidermólise Bolhosa Simples/diagnóstico , Epidermólise Bolhosa Simples/mortalidade , Feminino , Seguimentos , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Japão , Mutação , Linhagem , Resultado do TratamentoAssuntos
Epidermólise Bolhosa Simples/genética , Queratina-14/genética , Queratina-5/genética , Mutação de Sentido Incorreto/genética , Causas de Morte , Pré-Escolar , Análise Mutacional de DNA , Epidermólise Bolhosa Simples/mortalidade , Epidermólise Bolhosa Simples/fisiopatologia , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Estudos de Amostragem , Taxa de SobrevidaRESUMO
OBJECTIVE: To determine the cause-specific risks of death in children with epidermolysis bullosa (EB). STUDY DESIGN: 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.
