Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome
We report an extremely rare case of combined classical and periodontal Ehlers−Danlos syndrome (EDS) with early severe periodontitis and a generalized lack of attached gingiva. A German family with classical EDS was investigated by physical and dental evaluation and exome and Sanger sequencing. Due t...
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MDPI AG
2021-01-01
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| Series: | Biomolecules |
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| Online Access: | https://www.mdpi.com/2218-273X/11/2/149 |
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| author | Friedrich Stock Marcel Hanisch Sarah Lechner Saskia Biskup Axel Bohring Johannes Zschocke Ines Kapferer-Seebacher |
| author_facet | Friedrich Stock Marcel Hanisch Sarah Lechner Saskia Biskup Axel Bohring Johannes Zschocke Ines Kapferer-Seebacher |
| author_sort | Friedrich Stock |
| collection | DOAJ |
| description | We report an extremely rare case of combined classical and periodontal Ehlers−Danlos syndrome (EDS) with early severe periodontitis and a generalized lack of attached gingiva. A German family with classical EDS was investigated by physical and dental evaluation and exome and Sanger sequencing. Due to the specific periodontal phenotype in the affected child, an additional diagnosis of periodontal EDS was suspected. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of classical EDS with a heterozygous mutation in COL5A1 (c.1502del; p.Pro501Leufs*57). Additional to the major clinical criteria for classical EDS—generalized joint hypermobility, hyperelastic skin, and atrophic scarring —the child aged four years presented with generalized alveolar bone loss up to 80%, early loss of two lower incisors, severe gingival recession, and generalized lack of attached gingiva. Due to these clinical findings, an additional diagnosis of periodontal EDS was suspected. Further genetic analysis revealed the novel missense mutation c.658T>G (p.Cys220Gly) in C1R in a heterozygous state. Early severe periodontitis in association with generalized lack of attached gingiva is pathognomonic for periodontal EDS and led to the right clinical and genetic diagnosis in the present case. |
| first_indexed | 2024-03-09T03:48:17Z |
| format | Article |
| id | doaj.art-50d6f372675f49ebac40c6865fbc30e6 |
| institution | Directory Open Access Journal |
| issn | 2218-273X |
| language | English |
| last_indexed | 2024-03-09T03:48:17Z |
| publishDate | 2021-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomolecules |
| spelling | doaj.art-50d6f372675f49ebac40c6865fbc30e62023-12-03T14:30:44ZengMDPI AGBiomolecules2218-273X2021-01-0111214910.3390/biom11020149Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos SyndromeFriedrich Stock0Marcel Hanisch1Sarah Lechner2Saskia Biskup3Axel Bohring4Johannes Zschocke5Ines Kapferer-Seebacher6Institute of Human Genetics, University Hospital Münster, Vesaliusweg 12, D-48149 Münster, GermanyResearch Unit Rare Diseases with Orofacial, Manifestations (RDOM), Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Albert-Schweitzer-Campus 1, Building W 30, D-48149 Münster, GermanyPraxis für Humangenetik Tübingen, Paul-Ehrlich-Straße 23, D-72076 Tübingen, GermanyPraxis für Humangenetik Tübingen, Paul-Ehrlich-Straße 23, D-72076 Tübingen, GermanyInstitute of Human Genetics, University Hospital Münster, Vesaliusweg 12, D-48149 Münster, GermanyInstitute of Human Genetics, Medical University of Innsbruck, Peter-Mayr-Straße 1, A-6020 Innsbruck, AustriaDepartment of Operative and Restorative Dentistry, Medical University of Innsbruck, Anichstraße 35, A-6020 Innsbruck, AustriaWe report an extremely rare case of combined classical and periodontal Ehlers−Danlos syndrome (EDS) with early severe periodontitis and a generalized lack of attached gingiva. A German family with classical EDS was investigated by physical and dental evaluation and exome and Sanger sequencing. Due to the specific periodontal phenotype in the affected child, an additional diagnosis of periodontal EDS was suspected. Physical and genetic examination of two affected and three unaffected family members revealed a family diagnosis of classical EDS with a heterozygous mutation in COL5A1 (c.1502del; p.Pro501Leufs*57). Additional to the major clinical criteria for classical EDS—generalized joint hypermobility, hyperelastic skin, and atrophic scarring —the child aged four years presented with generalized alveolar bone loss up to 80%, early loss of two lower incisors, severe gingival recession, and generalized lack of attached gingiva. Due to these clinical findings, an additional diagnosis of periodontal EDS was suspected. Further genetic analysis revealed the novel missense mutation c.658T>G (p.Cys220Gly) in C1R in a heterozygous state. Early severe periodontitis in association with generalized lack of attached gingiva is pathognomonic for periodontal EDS and led to the right clinical and genetic diagnosis in the present case.https://www.mdpi.com/2218-273X/11/2/149Ehlers−Danlos syndromeperiodontitiscomplementC1Rtype V collagen |
| spellingShingle | Friedrich Stock Marcel Hanisch Sarah Lechner Saskia Biskup Axel Bohring Johannes Zschocke Ines Kapferer-Seebacher Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome Biomolecules Ehlers−Danlos syndrome periodontitis complement C1R type V collagen |
| title | Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome |
| title_full | Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome |
| title_fullStr | Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome |
| title_full_unstemmed | Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome |
| title_short | Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome |
| title_sort | prepubertal periodontitis in a patient with combined classical and periodontal ehlers danlos syndrome |
| topic | Ehlers−Danlos syndrome periodontitis complement C1R type V collagen |
| url | https://www.mdpi.com/2218-273X/11/2/149 |
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