Dabbagh Basma, Cukier Olivia, Yeganeh Mehdi, Halal Fahed, Dos Santos Beatriz Ferraz
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:
Staff dentist, Division of Dentistry, Montreal Children's Hospital, Montreal Children's Hospital, McGill University Health Center, Montreal, Quebec, Canada.
J Dent Child (Chic). 2019 Jan 15;86(1):61-63.
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.
先天性厚甲症（PC）是一种罕见的常染色体显性疾病，由五个角蛋白基因之一的杂合突变引起。本文旨在报告一名患有先天性厚甲症的5日龄婴儿，其最初表现为多颗畸形 natal 牙和牙槽嵴上的牙龈病变。进一步检查对患儿及其父母进行了基因分子检测，结果显示KRT17基因有一个新发的、新的错义变异（c. 307C>T，p. Arg103Cys），导致非保守氨基酸替代，从而诊断为先天性厚甲症。该病例突出了对患有多颗 natal 牙的患者进行多学科护理的必要性以及分子研究的相关性。
