Age and etiology of childhood epidermolysis bullosa mortality

Abstract

Epidermolysis bullosa (EB) is a heterogeneous group of congenital blistering diseases that are usually present in the neonatal period. They are characterized by blister formation in response to rubbing or frictional trauma. EB is classified into three major categories, each with many subtypes based on the precise location at which separation or blistering occurs, namely epidermolysis bullosa simplex (EBS), junctional epidermolysis bullosa (JEB), and dystrophic epidermolysis bullosa (DEB). We describe the causes and ages of death of three cases of EB in Hong Kong. A 24-year-old male with EBD diagnosed in the neonatal period lived a withdrawn life after completing secondary school and died of metastaic squamous cell carcinoma. Two neonates of consanguineous Pakistani parents, one with JEB and the other with EB-Pyloric Atresia variant, died of sepsis in infancy. We performed an extensive literature review of the causes and ages of death of these diseases. EB is a heterogeneous inherited blistering skin disease associated with significant morbidity and mortality. EBS is occasionally associated with death at early ages with sepsis. Patients with JEB usually died of sepsis at young age. DEB patients often survive to adulthood and die of cardiopulmonary and renal complications. Squamous cell carcinoma and metastases are unique in DEB.

Epidermólisis bullosa en el Perú: estudio clínico y epidemiológico de pacientes atendidos en un hospital pediátrico de referencia nacional, 1993-2015

“…El compromiso extracutáneo en la EB causa una alta morbilidad y mortalidad (15) . En nuestro estudio se presentaron casos con disfagia como manifestación del compromiso esofágico a muy temprana edad, seguido de estenosis y/o reflujo gastroesofágico.…”

“…La sepsis con punto de partida en piel (en EB distrófica) y en pulmón (en EB de la unión) fue la causa principal de mortalidad, coincidiendo con lo reportado en la literatura (15) . Actualmente existen mejoras en la terapéutica de EB tales como la terapia génica, trasplante de células pluripotenciales (fibroblastos alogénicos, células madre mesenquimales, médula ósea alogénicas) y remplazo proteico (28) .…”

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

“…Hence, skin care and nutrition support must be meticulous [31]. Malnutrition can be attributed to recurrent mucosal lesions, feeding difficulties, high energy consumption from accelerated skin turnover, transcutaneous loss of nutrients, and catabolic state from recurrent infections [22,31]. It is therefore important to involve dietitians to prepare easy-to-consume recipes, identify highcaloric and protein-fortified foods and beverages to replace protein lost in draining blisters, suggest vitamin and mineral nutritional supplements, and recommend dietary adjustments to prevent gastrointestinal problems, such as constipation, diarrhea, or painful defecation [4,11,12].…”

“…A retrospective review of EB cases diagnosed and evaluated at the Department of Pediatrics at Prince of Wales Hospital in Hong Kong was conducted [22]. ere were only two cases of congenital EBS diagnosed over the past 20 years (1999 to 2019).…”

Anaesthetic management of children with epidermolysis bullosa

“…Patients with severe forms of EBS and JEB subtypes tend to die in early childhood, whilst those with DEB can live into early adulthood, but this is variable and dependent upon the precise genetic mutation. 9,10 In all but the most mild forms of the condition, life expectancy is reduced. Since sufferers often present for surgical interventions in childhood, the wealth of experience in the management of these complex cases is held by paediatric anaesthetists.…”