Introduction
Periodontal Ehlers-Danlos syndrome type VIII (EDS VIII; pEDS) is a rare disorder caused by heterozygous mutation in complement 1 subunit genes C1R and C1S. [1]. Clinical findings, including periodontal disease, persistent pretibial plaques, joint mobility, skin fragility, and easy bruising, consolidate the diagnosis. As a pathognomonic feature, lack of attached gingiva is supposed. An accumulation of cerebral leukodystrophy in connection with pEDS is discussed.
Periapical cemental dysplasia (PCD) is considered a non-neoplastic proliferation of fibrous tissues and cementum-like hard tissues and, to the best of the authors’ knowledge, not described as occurring in pEDS. We describe a case of de novo-mutation of pEDS with generalized PCD and leukoencephalopathy.