Case for diagnosis.

Area of Science:

• Dermatology
• Medical Mycology
• Histopathology

Background:

• Epidermodysplasia verruciformis (EV) is a rare genetic disorder characterized by abnormal susceptibility to specific human papillomaviruses (HPVs).
• Patients with EV typically develop widespread, persistent HPV infections, manifesting as scaly macules and papules, particularly on sun-exposed areas.
• Atypical presentations of EV can mimic other dermatological conditions, necessitating thorough diagnostic evaluation.

Observation:

• A 27-year-old mixed-raced female presented with hypochromic, rough-surfaced plaques on her back and upper limbs, clinically resembling pityriasis versicolor.
• The patient reported a family history of similar skin lesions.
• Initial laboratory tests, including anti-HIV, were unremarkable.

Findings:

• Histopathological examination revealed enlarged keratinocytes with basophilic and microvacuolated cytoplasm in the upper spinous and granular layers.
• Anatomic-clinical correlation led to the confirmed diagnosis of epidermodysplasia verruciformis with a pityriasis versicolor-like presentation.

Implications:

• This case highlights the importance of considering rare genetic disorders like epidermodysplasia verruciformis, even with seemingly common presentations.
• Accurate diagnosis is crucial for appropriate patient management and genetic counseling.
• Further research into the HPV genotypes associated with this specific EV variant may offer insights into pathogenesis and treatment.