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Article

A familial case of periodontal Ehlers-Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.

The Journal of dermatology - 1 Jul 2022

Nakajima Kimiko, Suzuki Hisato, Yamamoto Mayuko, Yamamoto Tetsuya, Kawai Tomoko, Nakabayashi Kazuhiko, Hata Kenichiro, Kosaki Kenjiro, Nakajima Hideki, Sano Shigetoshi, Kubo Akiharu

Abstract excerpt

Periodontal Ehlers-Danlos syndrome (pEDS) is an autosomal-dominant disorder first described by Stewart in 1977 that is characterized by severe gingival recession and periodontitis that triggers premature loss of permanent teeth and alveolar bone absorption. It was recently shown that pEDS is caused by a heterozygous missense mutation in C1R or C1S, which encode complement 1 proteases. Here, we report a familial...

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PMID: 35365885
DOI: 10.1111/1346-8138.16372

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