Epidermolysis bullosa simplex, plakophilin deficiency type

Introduction:The term epidermolysis bullosa is applied to a heterogeneous group of noninflammatorydisorders characterized by the development of blisters or erosions following minor trauma ofthe skin. Epidermolysis bullosa simplex (EBS), one of the three major subgroups ofepidermolysis bullosa, is characterized by intraepidermal cleavage usually through the basallayer of cells.Case presentation:A 7-month-old male infant was referred to hospital with trauma induced bulla and erosions,healing without scar or milia. He suffered from generalized hypotrichia. He had history ofmicrovesicles and dystrophic nails at birth. Physical examination revealed multiple follicularkeratotic papules on his head, normal sweating, and normal serum Zn level. Pathologicevaluation revealed parakeratosis, acanthosis, and prominent hypergranulosis. FocalSubcorneal acantholysis was associated with few dyskeratotoc cells. DirectImmunofluorescence was negative for intercellular deposition of C3 and IgG in the surfaceepithelium. In Immunofluorescence antigenic mapping plakophilin and plakoglobulin werereported negative.Discussion:Exceedingly rare variants of EBS are reported recently. The superficial type in which there issubcorneal cleavage mimicking the scalded skin or peeling skin syndromes also is reportedin few cases. Because of subcorneal acantholysis, our case firstly reported as pemphigusfoliaceous . We would like to emphasize on the role of clinical correlation and directimmunoflorescence in the differentiation of immunobollous diseases from non immunogenicblistering disorders.

کلیدواژه ها:

epidermolysis bullosa ، plakophilin ، blister