Open AccessAn ANKRD 26 nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)
Author(s) -
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,
WoodburySmith Marc,
Scherer Stephen,
Uddin Mohammed
Publication year - 2018
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1595
Subject(s) - epidermodysplasia verruciformis , genodermatosis , nonsense mutation , medicine , somatic cell , nonsense , dermatology , malignancy , germline mutation , disease , mutation , girl , gene , genetics , virus , pathology , virology , biology , missense mutation
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 ANKRD 26 gene.