牙周埃勒斯-当洛综合征中的多灶性根尖周牙骨质发育异常合并c.890G＞a、G297D突变的白质脑病[牙周埃勒斯-当洛综合征]
Multifocal periapical cemental dysplasia in periodontal Ehlers-Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS].
作者信息
Nilius Manfred, Nilius Minou Helene, Müller Charlotte, Lauer Guenter, Berit Koch, Marcus Kohlhaas
机构信息
Niliusklinik Dortmund Germany.
Department of Oral and Maxillofacial Surgery University Hospital "Carl Gustav Carus", Technische Universität Dresden Dresden Germany.
出版信息
Clin Case Rep. 2022 Nov 4;10(11):e6490. doi: 10.1002/ccr3.6490. eCollection 2022 Nov.
Periodontal Ehlers-Danlos syndrome (pEDS) is a rare disorder caused by heterozygous mutations in complement 1 subunit genes C1R and C1S. To date, 148 cases have been described in the literature.We describe a case of a suspected de novo-mutation of pEDS with generalized Periapical cemental dysplasia (PCD) and cerebral leukoencephalopathy.
牙周埃勒斯-当洛综合征（pEDS）是一种由补体1亚基基因C1R和C1S的杂合突变引起的罕见疾病。迄今为止，文献中已描述了148例病例。我们描述了1例疑似pEDS新发突变合并广泛性根尖周牙骨质发育异常（PCD）和脑白质脑病的病例。
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