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Diagnosis of epidermodysplasia verruciformis: Two cases highlighting the role of direct HPV L1 gene sequencing
Author(s) -
Bushara Omar,
Miller Daniel,
Giubellino Alessio,
Schomaker Matthew,
Thyagarajan Bharat,
Nelson Andrew C.
Publication year - 2019
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.13444
Subject(s) - epidermodysplasia verruciformis , sanger sequencing , genotype , hpv infection , human papillomavirus , disease , malignant transformation , dermatology , gene , medicine , pathology , dna sequencing , biology , cancer , genetics , cervical cancer
Epidermodysplasia verruciformis (EV) is a rare skin disease characterized by the development of multiple flat warts with the potential for malignant transformation. Patients are susceptible to human papillomavirus (HPV) infection that develops in a background of either a genetic or acquired immunodeficiency predisposing patients to infection with specific HPV types that are ubiquitous but generally non‐pathogenic in healthy individuals. There is no standard clinical methodology for determining the causative HPV from patients with suspected EV. Here, we report the diagnostic workup of two EV cases and describe the use of L1 gene Sanger sequencing as a specific method to accurately identify the causative HPV genotype and confirm the diagnosis of EV.