Assessment of nutrient intakes of children and adolescents with recessive dystrophic epidermolysis bllosa, severe subtype.

Background and aims: epidermolysis bullosa (EB) is a rare disease presenting with skin fragility and formation of blisters. Constant presence of skin lesions, loss of blood, wastage of heat through the open skin, increased turnover of proteins and infections, result in increased energy, protein, and micronutrient needs. This study investigated the intake adequacy of energy, protein, zinc, iron, and dietary fiber in children with epidermolysis bullosa.

Methods

this cross-sectional, analytical study was conducted with children and adolescents of up to 18 years of age with recessive dystrophic EB, severe subtype. Demographic data and clinical manifestations affecting food consumption were collected. Nutritional assessment was performed through anthropometric data. We used a formula to estimate specific energy needs for EB, and ratio of skin lesions was also evaluated to assist in estimating energy needs. A protein adequacy of 115 % to 200 % of the Recommended Dietary Allowance was considered for the adequacy of protein intake. And the Dietary Reference Intake tables according to sex and age were used as a reference for micronutrients. Intake assessment was performed using seven consecutive daily food records. Sip feed consumption was considered for intake assessment.

Results

all patients showed undernutrition and presented at least three clinical symptoms that affect food consumption: pseudosyndactyly, microstomy, and blisters in the oral cavity. Sip feed constituted between 20 % and 50 % of the patients' energy intake. Intake of iron and zinc was adequate for most patients (confidence of adequacy ≥ 0.85), while fiber intake was below the reference value.

Conclusions

this study underscores the importance of nutritional monitoring for EB patients, which is often interpreted as a skin disease but has enormous nutritional repercussions.