Pachyonychia Congenita Associated with a Novel Variant of KRT17 Presenting Unusual Oral Manifestations.
J Dent Child (Chic)
; 86(1): 61-63, 2019 Jan 15.
Article
em En
| MEDLINE
| ID: mdl-30992103
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Anormalidades Dentárias
/
Paquioníquia Congênita
/
Queratina-17
/
Gengiva
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
/
Male
/
Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article