Childhood epidermolysis bullosa acquisita with autoantibodies against the noncollagenous 1 and 2 domains of type VII collagen: case report and review of the literature

Abstract

SummaryEpidermolysis bullosa acquisita (EBA) is an acquired subepidermal bullous disease characterized by IgG autoantibodies to type VII collagen, a major component of anchoring fibrils. Most patients with EBA are adult and develop autoantibodies to the non-collagenous 1 (NC-1) domain of type VII collagen．In this report, we describe a 4-year-old Japanese boy presenting pruritic vesicles and tense blisters over his whole body.Immunofluorescence studies revealed linear IgG/C3 deposits along the dermal-epidermal junction of the patient's skin, and circulating IgG autoantibodies mapping to the dermal side of 1M NaCl-split skin. By immunoblotting analysis using dermal extracts as a substrate, the patient's IgG antibodies labeled a 290 kD protein corresponding to type VII collagen.Immunoblotting studies using recombinant proteins demonstrated that the patient's circulating autoantibodies recognized not only the NC-1 but also the non-collagenous 2 (NC-2) domain of type VII procollagen.Review of the previously reported cases and the present case suggested that EBA cases with autoantibodies to regions other than the NC-1 domain are all children younger than 10 years of age with clinical features of an inflammatory phenotype.2

Epidermolysis bullosa acquisita: What’s new?

“…Interestingly, several previous reports described that some childhood EBA patients with reactivity to the triple-helical collagenous domain, as well as the NC1 and NC2 domains, were of the inflammatory type. [49][50][51][52] …”

Development of NC1 and NC2 domains of Type VII collagen ELISA for the diagnosis and analysis of the time course of epidermolysis bullosa acquisita patients

“…NC2 domain of type VII collagen contains minor antigenic epitopes [11,12]. Moreover, some EBA cases bind to the central collagenous domain of type VII collagen [13][14][15].…”

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“…Autoantibodies also may be present in the patient's serum. 1 Involvement of the gastrointestinal and respiratory mucosa is especially frightening because during the intubation maneuvers, some lesions can be procured and esophageal membranes or ulcers may develop. 2 Treatment for this disease consists of systemic glucocorticoids, sometimes in combination with other immunosuppressive drugs (eg, azathioprine or mycophenolate mofetil).…”

“…1,2 Moreover, EBA may be associated with other conditions (eg, inflammatory bowel disease, amyloidosis, lymphoma, and systemic lupus erythematosus). 2 The involvement of gastrointestinal and respiratory mucosa is particularly concerning because during intubation manoeuvres, some lesions may occur and esophageal membranes or ulcers also may appear.…”

“…Treatment consists of systemic glucocorticoids or other immunosuppressive drugs (eg, azathioprine or mycophenolate mofetil). 1,2 More recently, rituximab has been tested in refractory cases. 3 For the aforementioned reasons, EBA is a multisystem disorder that poses several surgical challenges.…”