Nutritional impairment of neonates with epidermolysis bullosa: a retrospective study

BACKGROUND: Epidermolysis bullosa (EB) is a highly invalidating genodermatosis characterized by skin and mucosa fragility and blister-formation caused by mutations of genes encoding components of the cutaneous basement membrane zone. Nutritional impairment is one of the main complications of all forms of EB, having a huge impact on growth, pubertal development, wound healing, resistance to infections and quality of life. METHODS: In our study we have retrospectively evaluated 17 children with EB to define whether nutritional impairment in those patients is already present in the neonatal period. As secondary outcomes we considered nutritional status differences among EB subtypes and relative percentages of underweight infants at birth, first and third month. Moreover, information concerning feeding modality, possible complications were also collected, as well as cutaneous or systemic infections and duration of hospital stay. RESULTS: Our study demonstrated that nutritional impairment of neonates with EB has an early onset since as at first month 35% of patients were below 5th centile for weight-for-age, and 94% were below the 50th percentile. Moreover, the number of infants at one month of life <5th centile for weight-for-age was significantly higher compared to birth. The nutritional status is also heavily related to the occurrence of complications, in particular infections; therefore, the prevention of these complications must play a central role in the treatment of these infants, also to avoid any nutritional impairment. CONCLUSIONS: Nutritional status of neonates with EB seems to be compromised already during the first month of life and it is heavily related to the occurrence of infections; therefore, the prevention of these complications must play a central role in the treatment of these infants, also to avoid any nutritional impairment.