Purpose

We report prospective clinical investigations of children affected with periodontal Ehlers–Danlos syndrome (pEDS). The main clinical features of pEDS in adults are early severe periodontitis, generalized lack of attached gingiva, and pretibial hemosiderin plaques due to dominant pathogenic variants in the C1R or C1S genes.

Methods

Nineteen children with a parent diagnosed with molecularly confirmed pEDS underwent physical examination including oral and radiological investigations followed by genetic testing.

Results

The only consistent manifestation of pEDS in childhood was a characteristic gingival phenotype: generalized lack of attached gingiva. All children with this gingival phenotype had inherited the familial pathogenic variant (n = 12) whereas the gingival phenotype was absent in children without the familial pathogenic variant (n = 7). Easy bruising was reported in eight affected and zero unaffected children. Other manifestations of pEDS were rarely present in children. Only 2/12 affected children aged 8 and 13 years fulfilled the clinical criteria for pEDS.

Conclusion

Generalized lack of attached gingiva is a pathognomonic feature of pEDS and the only clinical finding that is consistently present in affected adults and children. This is important because an early diagnosis may facilitate better dental hygiene in childhood, which may be essential to prevent early dental loss.

中文翻译：

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对患有牙周 Ehlers-Danlos 综合征的儿童进行的前瞻性临床研究将普遍缺乏附着牙龈确定为特征性特征

目的

我们报告了对患有牙周 Ehlers-Danlos 综合征 (pEDS) 的儿童的前瞻性临床调查。成人 pEDS 的主要临床特征是早期重度牙周炎、普遍缺乏附着牙龈和由于C1R或C1S基因的显性致病变异导致的胫前含铁血黄素斑块。

方法

19 名父母被诊断患有分子证实的 pEDS 的儿童接受了身体检查，包括口腔和放射学检查，然后是基因检测。

结果

儿童期 pEDS 唯一一致的表现是典型的牙龈表型：普遍缺乏附着牙龈。所有具有这种牙龈表型的儿童都遗传了家族性致病性变异（n  = 12），而没有家族性致病性变异的儿童则不存在牙龈表型（n  = 7）。据报道，有 8 名受影响的儿童和 0 名未受影响的儿童出现了容易瘀伤。pEDS 的其他表现在儿童中很少出现。只有 2/12 受影响的 8 岁和 13 岁儿童符合 pEDS 的临床标准。

结论

普遍缺乏附着牙龈是 pEDS 的一个典型特征，并且是唯一在受影响的成人和儿童中始终存在的临床发现。这很重要，因为早期诊断可以促进儿童时期更好的牙齿卫生，这对于防止早期牙齿脱落可能是必不可少的。