Epidermodysplasia verruciformis associated with myelodysplastic syndrome: an intriguing association

Epidermodysplasia verruciformis (EV) is a rare genodermatosis characterized by massive infection with human papillomaviruses (HPVs) and development of skin cancer. Myelodysplastic syndromes (MDSs) are a group of chronic conditions that involve dysplastic hematopoiesis, peripheral blood cytopenias, and a high incidence of progression into leukemia.

We describe the intriguing association of these two premalignant conditions (EV and MDS) in one patient. These diagnoses were confirmed by histopathologic examination and cytogenetic abnormalities of bone marrow cells.

The patient presented initially with clinical features typical of EV and impairment of cell-mediated immunity. In the skin lesions, HPVs 23 and 25 were identified by nested polymerase chain reaction. Six years later, he had recurrent episodes of mucosal bleeding with fever, weakness, and fatigue. At this time, severe refractory anemia and neutropenia were observed, and bone marrow smears showed hypercellularity with abnormal dysplastic megakaryocytes. The cytogenetic pattern showed abnormalities involving trisomy of chromosomes 8 and 21. The patient received a diagnosis of the indolent subtype of MDS.

Through the observation of our patient and review of the literature, we hypothesized that the pathomechanisms, including the role of oncogenes and cytokines, are connected to the progression to malignancy in these settings.