T-lymphocytes are directly involved in the clinical expression of migratory circinate erythema in epidermolysis bullosa simplex patients

Abstract

Epidermolysis bullosa simplex with migratory circinate erythema (EBS-MCE) is a rare EBS subtype characterised by migratory blistering lesions that resolve with brownish pigmentation. It is caused by a recurrent readthrough mutation, c.1649delG, in the tail of keratin 5. Here, we report a child with EBS-MCE and investigated the immunologic mechanisms underlying the migratory lesions in this patient. A skin biopsy from the patient from an active border of an erythematous lesion was used for the immunohistochemical characterisation of the inflammatory infiltrate and for TUNEL assay to detect apoptotic cells. We found abundant CD4+ and CD8+ T lymphocytes infiltrating the papillary dermis and lining the dermal-epidermal junction. A number of these cells expressed the activation marker CD69. CD83+ dendritic cells were present both in the epidermis and papillary dermis. Finally, TUNEL staining showed apoptosis of basal and suprabasal keratinocytes. These findings suggest a critical role of the cellular immunity in determining the EBS-MCE phenotype.