Skip to main content
padlock icon - secure page this page is secure

Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations

Buy Article:

$37.00 + tax (Refund Policy)

Or sign up for a free trial

Pachyonychia congenita (PC) is a rare autosomal dominant condition caused by heterozygous mutation in one of five keratin genes. The purpose of this paper is to report a five-day-old infant with PC whose initial presentation revealed multiple malformed natal teeth and gingival lesions on the alveolar crest. Further investiga- tions led to genetic molecular testing of the child and his parents, which revealed a de novo and novel missense variant of KRT17 (c. 307C>T, p. Arg103Cys), resulting in a non-conservative amino-acid substitution and a diagnosis of PC. This case high- lights the need for multidisciplinary care and the relevance of molecular investigations for patients with multiple natal teeth. (J Dent Child 2019;86(1):61-3)
Received September 26, 2018; Last Revision November 19, 2018; Accepted November 19, 2018.
No Reference information available - sign in for access.
No Citation information available - sign in for access.
No Supplementary Data.
No Article Media
No Metrics

Keywords: KERATIN MUTATION; ORAL MANIFESTATIONS; PACHYONYCHIA CONGENITA

Document Type: Case Report

Affiliations: 1: Assistant professor, Faculty of Dentistry, Université de Montréal and a staff pediatric dentist, Division of Dentistry, Montreal Children's Hospital, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada, Email: [email protected] 2: Staff dentist, Division of Dentistry, Montreal Children's Hospital, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada 3: Resident, Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada 4: Associate professor, Department of Medical Genetics, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada 5: Assistant professor, Faculty of Dentistry, McGill University and a research director, Division of Dentistry, Montreal Children's Hospital, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada

Publication date: January 1, 2019

More about this publication?
  • Acquired after the merger between the American Society of Dentistry for Children and the American Academy of Pediatric Dentistry in 2002, the Journal of Dentistry for Children (JDC) is an internationally renowned journal whose publishing dates back to 1934. Published three times a year, JDC promotes the practice, education and research specifically related to the specialty of pediatric dentistry. It covers a wide range of topics related to the clinical care of children, from clinical techniques of daily importance to the practitioner, to studies on child behavior and growth and development. JDC also provides information on the physical, psychological and emotional conditions of children as they relate to and affect their dental health.
  • Information for Authors
  • Submit a Paper
  • Subscribe to this Title
  • Membership Information
  • Information for Advertisers
  • Ingenta Connect is not responsible for the content or availability of external websites
  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more