@article {Liu:2020:0736-8046:974,
title = "Generalized bullae in a young girl with KRT6Arelated pachyonychia congenita",
journal = "Pediatric Dermatology",
parent_itemid = "infobike://bsc/pde",
publishercode ="bp",
year = "2020",
volume = "37",
number = "5",
publication date ="2020-09-01T00:00:00",
pages = "974-976",
itemtype = "ARTICLE",
issn = "0736-8046",
eissn = "1525-1470",
url = "https://www.ingentaconnect.com/content/bsc/pde/2020/00000037/00000005/art00060",
doi = "doi:10.1111/pde.14285",
keyword = "KRT6A, pachyonychia congenita, gene mutation",
author = "Liu, Jie and Zhong, Weilong and Yu, Bo and Lin, Zhimiao and Zheng, Yalei and Hu, Xiaoping",
abstract = "Pachyonychia congenita (PC) is a rare genodermatosis showing heterogeneity with five causative keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). Clinically, PC is characterized by hypertrophic onychodystrophy, painful palmoplantar keratoderma, oral leukokeratosis,
and follicular hyperkeratosis. We describe an atypical case of PC in a young Chinese girl presenting with generalized bullae and identified a recurrent heterozygous missense mutation c.1406T>C (p.Leu469Pro) in KRT6A. This suggests that bullae may represent an important
feature of KRT6Arelated PC.",
}