Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Kapferer-Seebacher, Ines; Oakley-Hannibal, Elizabeth; Lepperdinger, Ulrike; Johnson, Diana; Ghali, Neeti; Brady, Angela; Sobey, Glenda; Zschocke, Johannes; Dijk, Fleur S van

doi:10.1038/s41436-020-00985-y

Cited by 16 publications

(39 citation statements)

References 17 publications

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“…Totally one hundred eight individuals with molecularly confirmed periodontal EDS have been reported until now, with early severe periodontitis diagnosed in 99% of adult individuals [ 6 , 7 , 14 , 15 , 16 ]. Initiation of periodontal destruction of the permanent dentition is suspected in the early teens [ 6 , 17 ].…”

Section: Discussionmentioning

confidence: 99%

“…Initiation of periodontal destruction of the permanent dentition is suspected in the early teens [ 6 , 17 ]. A recent clinical study on twelve children aged four to 13 years with molecularly confirmed pEDS showed that the only consistent finding at that age was a generalized lack of attached gingiva [ 7 ]. In this cohort, only the oldest proband at age 13 years presented with periodontal destruction (localized clinical attachment loss of up to 6 mm) [ 7 ].…”

Section: Discussionmentioning

confidence: 99%

“…A recent clinical study on twelve children aged four to 13 years with molecularly confirmed pEDS showed that the only consistent finding at that age was a generalized lack of attached gingiva [ 7 ]. In this cohort, only the oldest proband at age 13 years presented with periodontal destruction (localized clinical attachment loss of up to 6 mm) [ 7 ]. Periodontal destruction of the primary dentition has not been reported up to now, although the premature loss of some deciduous teeth has been retrospectively reported in single affected individuals.…”

Section: Discussionmentioning

confidence: 99%

“…Affected individuals develop extensive gingivitis on even mild biofilm accumulation in their childhood, leading to periodontal tissue destruction in adolescence at the latest and premature loss of teeth [ 6 ]. Lack of attached gingiva predisposing for gingival recession is a pathognomonic feature of pEDS and the only clinical finding that is consistently present already in childhood [ 7 ]. Easy bruising and unresolving hematomas result in characteristic haemosiderin depositions on the shins.…”

Section: Introductionmentioning

confidence: 99%

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Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

et al. 2021

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

et al. 2021

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“…Some individuals report on early loss of some primary teeth. For details see (37,38). The diagnosis of pEDS is reached by molecular genetic analysis with identification of specific heterozygous mutations in the C1S or C1R genes.…”

Section: Immunologic Disordersmentioning

confidence: 99%

Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence

et al. 2021

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In adolescents periodontal destruction may be the primary manifestation of an as yet unrecognized rare systemic disease, and it may be up to the periodontist to make the correct tentative diagnosis. Many genetic diseases that present with primary periodontal manifestations in adolescence affect immune function, sometimes with only mild or absent systemic features. They include periodontal Ehlers-Danlos syndrome (lack of attached gingiva, various connective tissue abnormalities), Papillon-Lefèvre syndrome (palmoplantar hyperkeratosis), and plasminogen deficiency (fibrin deposition within mucous membranes). Other immune disorders with severe periodontitis manifesting in adolescence are usually diagnosed in early childhood due to unmistakeable systemic features. They include Cohen syndrome (developmental disorder, truncal obesity, and microcephaly), Hermansky-Pudlak Syndrome (oculocutaneous albinism, bleeding diathesis, and other systemic manifestations), glycogen storage disease type 1b, and Chediak-Higashi syndrome (pyogenic infections, albinism, and neuropathy). The structural integrity of periodontal tissue is affected in genodermatoses such as Kindler syndrome, a type of epidermolysis bullosa. In primary hyperoxaluria, inflammatory periodontal destruction is associated with renal calculi. Breakdown of periodontal tissues independent of dental plaque biofilm-induced periodontitis is found in hypophosphatasia (highly variable skeletal hypomineralization) or isolated odontohypophosphatasia, hypophosphatemic rickets and primary hyperparathyroidism. Finally, alveolar osteolysis mimicking localized periodontitis may be due to neoplastic processes, e.g., in neurofibromatosis type 1 (typical skin features including café au lait macules and neurofibromas), Langerhans cell histiocytosis (locally destructive proliferation of bone marrow-derived immature myeloid dendritic cells), and Gorham-Stout disease (diffuse cystic angiomatosis of bone).

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Oral manifestations of Ehlers‐Danlos syndromes

Lepperdinger

Zschocke

Kapferer-Seebacher

2021

American J of Med Genetics Pt C

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Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders.Patients with EDS exhibit distinct pathologies of the teeth and the oral cavity. Here, we summarize the current knowledge in the various EDS types, in particular regarding severe changes in oral health-related quality of life, the differential emergence of periodontitis, characteristic yet highly cumbersome dental manifestations, apparent anomalies of oral soft tissues, and relevant issues related to dental implantology. Resolution of remaining open questions will primarily rely on the standardization of diagnostic criteria. Clinical centers that specialize on this rare pathology need to apply congruent approaches for exact characterization of clinical features in conjunction with genetic validation that should be reached without exception in all patients and relevant family members.

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Prospective clinical investigations of children with periodontal Ehlers–Danlos syndrome identify generalized lack of attached gingiva as a pathognomonic feature

Cited by 16 publications

References 17 publications

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

Rare Genetic Disorders Affecting the Periodontal Supporting Tissues in Adolescence

Oral manifestations of Ehlers‐Danlos syndromes

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