Immunohistochemical and ultrastructural characterization of tonofilament and hemidesmosome abnormalities in a case of epidermolysis bullosa herpetiformis (Dowling-Meara).

ABSTRACT

BACKGROUND: A neonate with epidermolysis bullosa herpetiformis (EBH) (Dowling-Meara) had an undescribed ultrastructural and immunohistochemical abnormality. OBJECTIVE: The objective was to clarify the ultrastructural and immunohistochemical abnormalities in EBH to gain further insight into the pathogenesis of this disorder. METHODS: Tissue from the patient was studied with routine histochemistry, electron microscopy, and immunohistochemistry. RESULTS: Excessive clumping of tonofilaments on electron microscopic examination, anomalous hemidesmosomes, and immunohistochemical evidence of aberrant keratin expression by basal epidermal cells was found. CONCLUSION: This case of EBH provides further evidence for primary abnormalities involving cytoskeletal-membrane attachment plaque formation in this rare disorder.