Periodontal Ehlers-Danlos syndrome is a rare condition which impacts the complement system.
Chromosome location: 12p13
Genes affected: C1R (12p13.31) and C1S (12p13.31), encoding C1r and C1s of complement
Inheritance: autosomal dominant
(1) premature loss of teeth associated with a rapidly progressing periodontitis and lack of attached gingiva
(2) joint hypermobility
(3) skin and vascular fragility with easy bruisability
(4) pretibial hyperpigmentation and plaques
(5) microangiopathy with leukoencephalopathy
(1) C1r and/or C1s of complement
(2) type III and I collagen
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