Clinical characteristics: Periodontal Ehlers-Danlos syndrome (pEDS) is characterized by distinct oral manifestations. Periodontal tissue breakdown beginning in the teens results in premature loss of teeth. Lack of attached gingiva and thin and fragile gums lead to gingival recession. Connective tissue abnormalities of pEDS typically include easy bruising, pretibial plaques, distal joint hypermobility, hoarse voice, and less commonly manifestations such as organ or vessel rupture. Since the first descriptions of pEDS in the 1970s, 148 individuals have been reported in the literature; however, future in-depth descriptions of non-oral manifestations in newly diagnosed individuals with a molecularly confirmed diagnosis of pEDS will be important to further define the clinical features.
Diagnosis/testing: The diagnosis of pEDS is established in a proband with suggestive clinical findings and a heterozygous pathogenic gain-of-function variant in either C1R or C1S identified by molecular genetic testing.
Management: Treatment of manifestations: Treatment is individualized based on the clinical manifestations present. Due to the characteristic features of early and severe periodontitis, all individuals should be regularly seen by a periodontist beginning in early childhood. Excellent oral hygiene is also a major element of the treatment of existing periodontitis. Prosthetic rehabilitation after tooth loss is challenging as most of the alveolar bone is destroyed. Joint hypermobility may benefit from physiotherapy, occupational therapy, pain management, and appropriate exercise.
Surveillance: Due to high risk of progression of the periodontal disease, supportive periodontal care including reevaluation of periodontal parameters, oral hygiene instructions (e.g., use of interdental cleaning devices and electric toothbrushes), and supra- and sub-gingival debridement is recommended every three to six months, according to the needs of the individual. Complications of joint hypermobility addressed by consultant rheumatologist, physical therapist, and occupational therapist as needed.
Evaluation of relatives at risk: It is appropriate to clarify the genetic status of apparently asymptomatic older and younger at-risk relatives of an affected individual in order to identify as early as possible those who would benefit from prompt initiation of preventive dental hygiene and routine dental care and surveillance.
Genetic counseling: Periodontal EDS is inherited in an autosomal dominant manner. Most individuals with pEDS have the disorder as the result of a C1R or C1S pathogenic variant inherited from an affected parent. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant and developing the disorder. Once the pEDS-causing pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are technically possible.
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