Multifocal periapical cement dysplasia in Ehlers-Danlos Typ VIII
combined with leukoencephalopathy in de novo-mutation of
c.890G>A, G297D [pEDS]
Abstract
Periodontal Ehlers-Danlos syndrome type VIII (pEDS) is rare and caused
by mutation in complement 1 subunit. Lack of attached gingiva, pretibial
plaques, joint mobility, skin fragility, and easy bruising consolidate
the diagnosis. We describe a case of de novo-mutation of pEDS with
generalized periapical cemento dysplasia (PCD) and leukoencephalopathy.
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