Common variable immunodeficiency syndrome associated with epidermodysplasia verruciformis

Area of Science:

• Immunology
• Dermatology
• Virology

Background:

• Common variable immunodeficiency syndrome (CVID) is a primary immunodeficiency characterized by impaired antibody production.
• Epidermodysplasia verruciformis (EV) is a rare genetic disorder predisposing individuals to infections with specific human papillomaviruses (HPVs) and increasing the risk of skin cancers.
• The co-occurrence of CVID and EV is exceptionally rare, with limited documented cases.

Observation:

• A 21-year-old Hispanic female presented with clinical manifestations of epidermodysplasia verruciformis (EV), including flat warts and squamous cell carcinomas.
• The patient was diagnosed with common variable immunodeficiency syndrome (CVID), indicating a compromised immune system.

Findings:

• Human papillomavirus (HPV) typing using polymerase chain reaction (PCR), cloning, and sequencing identified HPV-8 and HPV-23 DNA in skin biopsy samples.
• The detected HPV types (HPV-8 and HPV-23) are known to be associated with epidermodysplasia verruciformis (EV).

Implications:

• This case represents the second reported instance of an association between common variable immunodeficiency syndrome (CVID) and epidermodysplasia verruciformis (EV).
• The findings underscore the complex interplay between immune deficiencies, specific HPV infections, and the development of dermatological conditions.
• Further research is warranted to elucidate the mechanisms underlying this rare association and its clinical management.