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.