An ANKRD26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome). Issue 8 (5th June 2018)

• Record Type: Journal Article
• Authors: Uddin, K. M. Furkan; Amin, Robed; Majumder, Sabbiha Nadia; Aleem, Mohammad Abdul; Rahaman, Atikur; Dity, Nushrat Jahan; Baqui, M. D. Abdul; Akter, Hosneara; Rahman, Muhammad Mizanur; Woodbury‐Smith, Marc; Scherer, Stephen; Uddin, Mohammed
• Is Part Of: Clinical case reports. Volume 6:Issue 8(2018)
• Page Start: 1426
• Page End: 1430
• Publication Date: 2018-06-05
• Subjects: epidermodysplasia verruciformis -- nonsense mutation -- somatic mutation -- whole genome sequencing; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.1595
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10‐year‐old girl with a nonsense somatic mutation impacting ANKRD26 gene. Abstract : Epidermodysplasia verruciformis (EV) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus (HPV) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10‐year‐old girl with a nonsense somatic mutation impacting ANKRD26 gene.