PA05: Epidermolysis bullosa acquisita in children: a report of three cases

M.L. Bageta,¹ E. Cella,² B.A. Cervini,² M. Del Valle Centeno,² L. Roquel,³ J. Mee,⁴ R. Grovers,⁴ E. Calonje,⁴ R. Goodwin,⁵ J.E. Mellerio,⁵ G. Petrof¹ and A.E. Martinez¹

¹Great Ormond Street Hospital, London, UK; ²Hospital Nacional de Pediatria ‘Prof Dr Juan P Garrahan’, Buenos Aires, Argentina; ³Laboratorio Roquel, Buenos Aires, Argentina; ⁴Guy’s and St Thomas’, London, UK; and ⁵St Woolos Hospital, Newport, UK

Epidermolysis bullosa acquisita (EBA) is an autoimmune blistering skin disease, characterized by skin fragility and blisters over trauma-prone sites, scarring, milia and onychodystrophy. Although exceptionally rare in children, we report three paediatric patients with EBA and variable disease severity. Case 1 was a previously healthy 5-year-old girl, one of monozygotic twins, with a 10-month history of blisters on her feet and ankles. On examination she had oral erosions, dystrophic nails and multiple milia. Direct immunofluorescence (DIF) showed bright linear deposition of IgG at the basement membrane zone (BMZ), and serum indirect immunofluorescence (IMF) showed antibodies against bullous pemphigoid (BP)180, BP230 and type VII collagen. She was treated with dapsone 50 mg daily and prednisolone 1 mg kg^–1 daily for 2 weeks, which was slowly tapered over the next 1.5 months with significant improvement. Case 2 was a 12-year-old boy with a 6-month history of recurrent blisters on the trunk, limbs, buttocks and ears. Physical examination revealed atrophic scars with milia on both ears, trunk, buttocks, arms, hands, legs and feet. Skin biopsy showed a subepidermal blister with a mild dermal inflammatory infiltrate. DIF showed linear deposits of IgG, IgA and C3 at the BMZ with indirect IMF on salt-split skin staining to the base. He was treated with prednisone 1 mg kg^–1 daily for 1 month followed by a slow tapering, which led to complete remission. Case 3 was a 4-year-old girl with a 4-month history of multiple blisters on the trunk, palms, soles and oral erosions. Physical examination revealed widespread areas of blistering alongside milia and tongue erosions. A skin biopsy demonstrated a scanty inflammatory infiltrate in the dermis. DIF showed IgG deposition at the BMZ with indirect IMF on salt-split skin staining to the base. She was started on prednisolone 1 mg kg^–1 daily and, owing to only a partial response, azathioprine 1·5 mg kg^–1 daily was added. Owing to severe disease and lack of improvement, she was started on rituximab 375 mg m^–2. She received a total of four infusions administered weekly. Her disease became quiescent, allowing tapered discontinuation of prednisolone followed by azathioprine. Minor skin lesions were controlled with topical steroids afterwards. Early use of topical steroids can help, but high-dose oral corticosteroids are often required. There are a variety of reported second-line therapies such as azathioprine, colchicine, dapsone, methotrexate, ciclosporin, mycophenolate mofetil and cyclophosphamide. Rituximab has been reported to be safe and effective in cases of intractable disease that do not respond to first- and second-line therapies.