Dental Manifestations and Management in Schimke Immuno-osseous Dysplasia: A six year follow-up case report
조혜진, 김현태, 송지수, 신터전, 현홍근, 김정욱, 장기택, 김영재,
소속 상세정보
조혜진 ( Cho Hye-Jin ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
김현태 ( Kim Hyun-Tae ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
송지수 ( Song Ji-Soo ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
신터전 ( Shin Teo-Jeon ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
현홍근 ( Hyun Hong-Keun ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
김정욱 ( Kim Jung-Wook ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
장기택 ( Jang Ki-Taeg ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
김영재 ( Kim Young-Jae ) - Seoul National University School of Dentistry Department of Pediatric Dentistry
KMID : 1144020210170020027
Abstract
Schimke immuno-osseous Dysplasia (SIOD) is a rare multi-systemic disease caused by bi-allelic mutation of SMARCAL 1 gene encoding ATP dependent sucrose non-fermenting 2 family proteins involved in chromatin remodeling, which occurs during gene regulation, DNA replication and repair. Patients with SIOD commonly show spondyloepiphyseal dysplasia, progressive renal failure and T-cell immunodeficiency. Although the severity of the disease varies among individuals, patients with earlier onset only survive until the first decade of their life. SIOD patients exhibit unique dental features including hypodontia, microdontia and molar root hypoplasia, resulting in bell-shaped teeth. This case report describes a six year follow-up of a boy with SIOD throughout his mixed dentition stage. His dental manifestations as well as preventive dental management provided are presented. Antibiotic prophylaxis is necessary during invasive dental procedures considering the immunological status and platelet transfusion may be necessary in case of bone marrow failure.
키워드
Schimke Immuno-osseous Dysplasia; SMARCAL1; Molar root hypoplasia
원문 및 링크아웃 정보
등재저널 정보