D3.243 - Food allergy in children with inherited epidermolysis bullosa: possible role of transcutaneous sensitization and features of the clinical course

Inherited epidermolysis bullosa (EB) is a rare genetic disorder characterized by severe skin and mucosal fragility with chronic barrier disruption. Extensive and persistent skin damage, together with gastrointestinal mucosal involvement described in a subset of patients, may impair immune tolerance development and facilitate transepidermal allergen exposure. In children with EB, manifestations of food allergy (FA) often overlap with cutaneous and extracutaneous complications of the underlying disease, complicating its recognition and clinical interpretation.

A prospective cohort study included 173 children with EB (119 with dystrophic EB and 54 with simplex EB), aged 2 months to 17 years. A control group comprised 81 children without EB or FA. Clinical assessment included disease severity evaluation using the Epidermolysis Bullosa Disease Activity and Scarring Index (EBDASI), pruritus intensity, nutritional status, and dietary characteristics. Serum total IgE (tIgE) and specific IgE (sIgE) levels were measured using ImmunoCAP. FA was diagnosed based on clinical history, response to an elimination diet, and food challenge when indicated.

Elevated tIgE levels were detected in a substantial proportion of children with EB and occurred significantly more often in dystrophic EB compared with simplex EB (p<0.05). A significant positive correlation was observed between tIgE levels and disease activity assessed by EBDASI (p<0.05). In children with dystrophic EB, tIgE levels increased with age.

Food sensitization was identified in 60.1% of children with EB and was significantly more frequent in dystrophic EB than in simplex EB (p<0.05). Dystrophic EB was characterized by polysensitization, expansion of the food allergen spectrum, and an age-related increase in sensitization frequency (all p<0.05). Compared with controls, children with dystrophic EB demonstrated a significantly higher rate of sensitization to common food allergens, whereas children with simplex EB did not differ significantly from controls.

Sensitization to food allergens not regularly consumed was a distinctive finding. In particular, sensitization to kiwi was detected in a subset of children with dystrophic EB despite the absence of this food in the diet, while sensitization to pollen allergens, including birch pollen, was not observed. Clinically relevant FA was diagnosed in 15% of patients and predominantly manifested with cutaneous symptoms that were often difficult to distinguish from EB-related skin changes.

Children with inherited EB, particularly those with dystrophic forms, demonstrate a high prevalence of food sensitization and clinically relevant FA, distinct from children with simplex EB and from controls. Elevated and age-dependent tIgE levels correlated with disease activity reflect characteristic immunological features of dystrophic EB. Expansion of the sensitization spectrum, polysensitization, and detection of sensitization to foods absent from the diet in the absence of pollen sensitization suggest a possible contribution of transcutaneous sensitization. Cutaneous predominance of FA manifestations and their overlap with EB symptoms define specific diagnostic challenges in this population.