Childhood epidermolysis bullosa acquisita with underlying coeliac disease.

Epidermolysis bullosa acquisita (EBA) is a chronic sub-epidermal, mucocutaneous blistering disease caused by autoantibodies targeting the non-collagenous domain 1 (NC1) of type VII collagen (1). Most reported cases have occurred in adults, while patients with childhood EBA are very rare (2–4). Coeliac disease (CD) is an immune-mediated systemic disorder in genetically (mostly HLA-related) predisposed individuals, elicited by exposure to gluten and characterized by gluten-dependent signs and symptoms, autoantibodies and a typical small bowel enteropathy (5). Autoantibodies against tissue transglu-taminase are highly specific and sensitive for patients with CD on a normal gluten-containing diet regardless of symptoms (5). We report here a rare case of occurrence of EBA in childhood and the first report of association with CD. A 5-year-old Caucasian girl was admitted to our department with a 6-month history of facial cutaneous blistering eruptions that were refractory to treatment with topical antibiotics and glucocorticosteroids. She also had recurrent abdominal pain, constipation, mood changes, and fatigue, which had started a few months prior to the blistering. As CD was suspected 2 months prior to admission, anti-tissue transglutaminase and anti-gliadin antibody tests were performed and were positive. A gluten-free diet (GFD) was started, which led to some improvements in both gastrointestinal and skin symptoms. To confirm CD according to the current diagnostic guidelines (5), gluten was reintroduced into the diet prior to obtaining duodenal biopsies. This resulted in a relapse of the skin lesions. Physical examination revealed tense bullae and ero-sions on the face (Fig. 1A), trunk, perianal area, and oral and genital mucosa. Routine laboratory tests at the time of endoscopy were normal, except for iron deficiency. Histopathology of a skin biopsy showed subepidermal blistering with predominantly neutrophil infiltration in the upper dermis. Direct immunofluorescence mi-croscopy revealed linear deposition of IgG1, IgG3 and IgG4 at the dermo-epidermal junction. Indirect immu-nofluorescence microscopy was positive for both IgA and IgG (Fig. 1C and D). Immunoblot analysis demonstrated IgG4 antibodies reactive with both a 290-kDa polypeptide in dermal extracts and recombinant NC1 domain of type VII collagen. CD was proven by repeated positive IgA anti-tissue transglutaminase antibodies and histology of duodenal biopsies with total villous atrophy, crypt hyperplasia, and increased intraepithelial lymphocytes (Marsh IIIB). Thus, she was diagnosed as having EBA with concomitant CD. Due to severe skin lesions and a deteriorated general condition, the patient was hospitalized and started on prednisolone (1 mg/kg/day) while a GFD was reinitiated. Within 4 days, her …