Generalized bullae in a young girl with KRT6A‐related pachyonychia congenita. Issue 5 (14th July 2020)
- Record Type:
- Journal Article
- Title:
- Generalized bullae in a young girl with KRT6A‐related pachyonychia congenita. Issue 5 (14th July 2020)
- Main Title:
- Generalized bullae in a young girl with KRT6A‐related pachyonychia congenita
- Authors:
- Liu, Jie
Zhong, Weilong
Yu, Bo
Lin, Zhimiao
Zheng, Yalei
Hu, Xiaoping - Abstract:
- 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 KRT6A‐ related PC.
- Is Part Of:
- Pediatric dermatology. Volume 37:Issue 5(2020)
- Journal:
- Pediatric dermatology
- Issue:
- Volume 37:Issue 5(2020)
- Issue Display:
- Volume 37, Issue 5 (2020)
- Year:
- 2020
- Volume:
- 37
- Issue:
- 5
- Issue Sort Value:
- 2020-0037-0005-0000
- Page Start:
- 974
- Page End:
- 976
- Publication Date:
- 2020-07-14
- Subjects:
- gene mutation -- KRT6A -- pachyonychia congenita
Pediatric dermatology -- Periodicals
Children -- Diseases -- Periodicals
618.925 - Journal URLs:
- http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1525-1470 ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/pde.14285 ↗
- Languages:
- English
- ISSNs:
- 0736-8046
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 6417.582000
British Library DSC - BLDSS-3PM
British Library HMNTS - ELD Digital store - Ingest File:
- 14365.xml