Unique immunobullous disease in a child with a predominantly IgA response to three desmosomal proteins

Abstract

We report the case of a 15-year-old girl who presented at 11 years of age with an interesting, acquired and, to our knowledge, unique blistering disease. It involved both skin and mucous membranes with extensive oral and periungual lesions, clinically resembling paraneoplastic pemphigus. Skin biopsy showed an inflammatory cell infiltrate in the upper dermis with numerous leucocytoclastic nuclear fragments, neutrophilic papillary microabscesses and a small subepidermal bulla. Direct and indirect immunofluorescence studies showed marked intercellular staining with IgA and less prominent staining with IgG. Granular deposition of IgA and, to a lesser extent IgG and C3, was also seen along the basement membrane zone. Immunoblotting and enzyme-linked immunosorbent assay studies showed both IgG and IgA antibodies to desmocollin, desmoglein 3 and desmoplakin. However, despite extensive investigation, no underlying neoplasm was found. Treatment with dapsone and sulphapyridine proved ineffective but methylprednisolone and azathioprine have reduced the blistering. We believe that this patient is unique for her combination of IgA and IgG antibodies to desmoplakin, desmocollin and desmoglein 3, although further studies may provide further clarification.

Non-classical forms of pemphigus: pemphigus herpetiformis, IgA pemphigus, paraneoplastic pemphigus and IgG/IgA pemphigus

“…63,129 Two of these cases differ from all of the others by also showing IgG 63 or IgG and IgA in the BMZ by DIF. 124 …”

“…Two cases deserve special note for also showing IgG or IgG and IgA in the BMZ by DIF: both presented with cutaneous and mucous lesions and subepidermal cleavage and were extensive investigated to exclude the possibility of malignancy. 63,124 …”

“…Other drugs employed were acitretin, antimalarial and nicotinamide and minocycline. 116,122,123, 124 …”

IgA Pemphigus in a Child – a Case Report

“…IGAP is an extremely rare condition in children -detailed PubMed search revealed only 9 cases, of whom 3 were classified as SPD type (two girls and one boy), 2 were IEN type (one girl and one boy), one was classified as pemphigus vegetans variant IGAP (one boy) and the other 3 cases were unclassified (three girls) (5,6,7,8,9,10,11,12,13). The youngest reported patient was a 1-month-old girl (9).…”

Pemphigus vulgaris Induced by Diazinon and Sun Exposure

“…A number of bizarre cases have been reported in the literature [8][9][10] in which clinical, histologic and immunofluorescence evidence of pemphigus coexists with bullous pemphigoid or another bullous disease. Like our case, none can be classified under any clear specific diagnosis when the immunofluorescence and Western blot data are taken into consideration.…”