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口腔医生在牙周弹性纤维-先天不全综合征早期诊断中的关键作用:一对同胞兄妹的罕见病例报告。

The key role of the dental practitioner in early diagnosis of periodontal Ehlers-Danlos syndromes: a rare case report of siblings.

出版信息

Quintessence Int. 2021;52(2):166-174. doi: 10.3290/j.qi.a45263.

DOI:10.3290/j.qi.a45263
PMID:33433082
Abstract

Ehlers-Danlos syndromes (EDS) are a group of diverse hereditary connective tissue disorders. Various EDS subtypes present as different diseases. Periodontitis of early onset is a major criterion of periodontal EDS (pEDS). This article reports the clinical case of two siblings, young adults, who came to the clinic for diagnosis and treatment of periodontal disease. The patients had already been diagnosed with pEDS several months earlier after being referred for genetic testing by a dermatologist. It should be noted that in these siblings pEDS had been misinterpreted for years by health care specialists despite the patients' periodontal disease, which had appeared at the age of 3 years. The subsequent effects of periodontal disease in these patients jeopardized the survival prognosis of their teeth. It may be stated that, in spite of pEDS's status as a rare syndrome, the dental practitioner can play a key role in the early diagnosis by responding appropriately to periodontal manifestations at early stages. (Quintessence Int 2021;52:166-174; doi: 10.3290/j.qi.a45263)

.
摘要

埃勒斯-当洛斯综合征(EDS)是一组不同的遗传性结缔组织疾病。各种 EDS 亚型表现为不同的疾病。早发性牙周炎是牙周 EDS(pEDS)的主要标准。本文报道了两例年轻成人兄弟姐妹的临床病例,他们因牙周病就诊进行诊断和治疗。几个月前,皮肤科医生建议进行基因检测,患者被诊断为 pEDS。值得注意的是,尽管患者的牙周病在 3 岁时就已出现,但多年来,尽管有牙周病,健康护理专家仍错误地将 pEDS 解释为其他疾病。这些患者的牙周病随后产生的影响危及他们牙齿的生存预后。可以说,尽管 pEDS 是一种罕见的综合征,但牙医通过对早期牙周表现做出适当反应,可以在早期诊断中发挥关键作用。(国际口腔医学杂志 2021;52:166-174;doi:10.3290/j.qi.a45263)

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引用本文的文献

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Non-oral manifestations in adults with a clinical and molecularly confirmed diagnosis of periodontal Ehlers-Danlos syndrome.临床及分子诊断确诊的成人牙周埃勒斯-当洛综合征的非口腔表现
Front Genet. 2023 May 31;14:1136339. doi: 10.3389/fgene.2023.1136339. eCollection 2023.
2
Oral characteristics in adult individuals with periodontal Ehlers-Danlos syndrome.成人牙周型埃勒斯-当洛斯综合征的口腔特征。
J Clin Periodontol. 2022 Dec;49(12):1244-1252. doi: 10.1111/jcpe.13698. Epub 2022 Jul 29.
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Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.
青春期前牙周炎合并经典型和牙周型埃勒斯-当洛斯综合征患者。
Biomolecules. 2021 Jan 24;11(2):149. doi: 10.3390/biom11020149.