Multifocal periapical cemental dysplasia in periodontal Ehlers–Danlos syndrome combined with leukoencephalopathy in the mutation of c.890G > a, G297D [pEDS]

Abstract

Abstract 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.

Keywords

• cone‐beam
• densitometry
• disease
• dysplasia
• ehlers‐danlos syndromes
• jaw