Epidermodysplasia Verruciformis: Uncommon Skin Manifestation Unveiling Primary Immunodeficiency

Epidermodysplasia verruciformis (EV) is a rare genetic disorder marked by heightened susceptibility to persistent skin infections caused by human papillomaviruses (HPV). In some instances, EV is associated with immune deficiencies, especially those affecting cellular and humoral responses. Individuals with deficiencies in cellular immunity are more prone to developing EV. This clinical case presents an unusual form of combined immune deficiency, revealed through EV (Lutz-Lewandowsky syndrome). The patient's presentation with extensive verrucous lesions from a young age poses diagnostic challenges. Recurrent respiratory and digestive infections, without other systemic manifestations, complicate the diagnostic process. Decreased lymphocyte subpopulations, including global T, B, and NK lymphopenia, suggest combined immunodeficiency, reinforced by first-degree consanguinity. Negative results in viral serologies and investigations for systemic lupus erythematosus emphasize the importance of considering primary immunodeficiencies. Therapeutic interventions, such as immunoglobulin courses and local laser sessions, demonstrate a multidisciplinary strategy targeting both immune function and cutaneous manifestations. This case underscores the significance of early detection of combined immunodeficiencies for timely intervention and improved patient outcomes. Further research is crucial to explore the genetic complexities of combined immunodeficiencies and their implications in skin disorders like EV.