Abstract
Epidermodysplasia verruciformis (EV) is a rare autosomal recessive skin condition characterized by germline mutations of the EVER/TMC6 and EVER2/TMC8 genes predisposing to generalized human papilloma virus (HPV) infection, often HPV types 3, 5 and 20. Acquired epidermodysplasia verruciformis (AEV) is a similar acquired disorder described in profoundly immunosuppressed individuals such as transplant recipients and HIV/AIDS patients. Histologically, both EV and AEV show similar features of vacuolated keratinocytes in the upper epidermis with bubbly, bluish cytoplasm and thickened granular layer. We present the case of a 44-year-old female with common variable immunodeficiency (CVID), status post lung transplant presenting with a forehead mass in addition to face/upper trunk lesions and diffuse erythematous maculopapular rash with plaques noted by the patient since she was 7 years old. Excision of the forehead mass revealed invasive SCC with trichilemmal features and squamous cell carcinoma in situ (SCCIS) with EV-like features. The face/upper trunk lesions were inverted follicular keratosis (IFK), actinic keratosis (AK) and SCCIS with superimposed EV-like features. High risk HPV testing with chromogenic in situ hybridization (CISH) for HPV types 16, 18, 31, 33, 35, 45, 52, 58 was negative on all lesions. Unfortunately, the patient was lost from follow up. Although testing for the most common types of HPV that cause AEV (HPV 3, 5 and 20) was not performed, the combination of clinical and histomorphologic features was most consistent with AEV. In summary, we present a case of AEV with associated squamous cell carcinomas in an organ transplant recipient patient with CVID.
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