Maarouf Sarah, Clark Marie, Chen Anthony, Haggstrom Anita
Indiana University School of Medicine, Indianapolis, Indiana, USA.
Department of Dermatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Pediatr Dermatol. 2025 Mar-Apr;42(2):305-310. doi: 10.1111/pde.15841. Epub 2024 Dec 10.
We describe a 1-day old female with features of keratitis-ichthyosis-deafness (KID) syndrome and natal teeth. Genetic analysis confirmed GJB2 263C and A88V de novo pathogenic variants consistent with KID syndrome. Natal teeth were promptly extracted to avoid the risk of aspiration. This review describes subsets of ichthyoses that have been reported in association with dental anomalies, highlighting the need for early dental referral and importance of long-term follow-up.
我们描述了一名患有角膜炎-鱼鳞病-耳聋(KID)综合征和 natal 牙的 1 日龄女性。基因分析证实了与 KID 综合征一致的 GJB2 263C 和 A88V 新生致病性变异。及时拔除 natal 牙以避免误吸风险。本综述描述了已报道的与牙齿异常相关的鱼鳞病亚组,强调了早期牙科转诊的必要性和长期随访的重要性。