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KMID : 1144020210170020027
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Journal of Korean Association for Disability and Oral Health
2021 Volume.17 No. 2 p.27 ~ p.32
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Dental Manifestations and Management in Schimke Immuno-osseous Dysplasia: A six year follow-up case report
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Cho Hye-Jin
Kim Hyun-Tae
Song Ji-Soo
Shin Teo-Jeon
Hyun Hong-Keun
Kim Jung-Wook
Jang Ki-Taeg
Kim Young-Jae
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Abstract
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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.
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KEYWORD
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Schimke Immuno-osseous Dysplasia, SMARCAL1, Molar root hypoplasia
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