Multifocal Periapical Cemental Dysplasia in Periodontal Ehlers-Danlos Syndrome Combined with Leukoencephalopathy in the Mutation of C.890G > a, G297D [pEDS]

Overview

Journal Clin Case Rep

Date 2022 Nov 9

PMID 36348983

Authors

Manfred Nilius

Minou Helene Nilius

Charlotte Muller

Guenter Lauer

Koch Berit

Kohlhaas Marcus

Affiliations

Soon will be listed here.

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.

Citing Articles

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

Nilius M, Nilius M, Muller C, Lauer G, Berit K, Marcus K Clin Case Rep. 2022; 10(11):e6490.

PMID: 36348983 PMC: 9634265. DOI: 10.1002/ccr3.6490.

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