Verruciform epidermodysplasia pathology

Introduction

Epidermodysplasia verruciformis (EV) is rare autosomal recessive genodermatosis due to mutations of the EVER1 / TMC6 or EVER2 / TMC8 genes that result in an intrinsic immunodeficiency against certain types of human papillomavirus (HPV). EV is also seen in patients infected with human immunodeficiency virus (HIV), and with CD8 T cell lymphocytopenia or graft versus host disease (GVHD).

Histology epidermodysplasia verruciformis

Histopathology of EV lesions show enlarged cells in the granular or spinous layer. These have a fairly distinctive grayish-blue swelling cytoplasm. (figure 1) reflecting HPV infection by the unusual types of HPV seen in this disorder. May have enlarged keratohyalin granules and koilocytes.

Other skin lesions seen on EV may show a flat wart or a verruca vulgaris. morphology. This is thought to reflect the HPV subtype involved.

keratinocyte dysplasia and scaly cell carcinoma may be associated with HPV-induced lesions in EV.

Special studies for epidermodysplasia verruciformis

PCR can be used to identify EV-HPV subtypes. HPV-3,5,8,9,10,13,14,15,17,19-25,28,29,36-38,46,47,49,50,59 have been isolated.

Differential diagnosis epidermodysplasia verruciformis pathology

EV-type changes: Foci of EV changes can rarely be seen incidentally in actinically damaged skin, or as part of a acanthoma ("EV-acanthoma").

Squamous cell carcinoma in the place (Bowen's disease) – sometimes the cytoplasm in a non-HPV induced dysplastic epithelium may be pale or clear similar to that seen in Figure 1. EV lesions may also harbor dysplasia or carcinoma