Severe early-onset pediatric periodontitis as a manifestation of an underlying connective tissue disorder: a diagnostic case report

Severe periodontal destruction during childhood is uncommon and should prompt investigation for underlying systemic, immunological, genetic, or connective tissue disorders. Early recognition is essential because periodontal manifestations may represent the first clinical sign of a broader disease process. This report describes the multidisciplinary diagnostic evaluation of a child presenting with devastating early-onset periodontitis and features suggestive of an underlying connective tissue disorder. A 10-year-old girl was referred for evaluation of progressive tooth mobility, gingival inflammation, recurrent periodontal abscesses, premature loss of permanent teeth, and extensive alveolar bone loss. Clinical examination revealed severe periodontal destruction with probing depths of 5–6 mm, profuse bleeding on probing, and grade II–III mobility affecting multiple teeth. According to the 2018 Classification of Periodontal and Peri-Implant Diseases and Conditions, the presentation was considered most consistent with periodontitis as a manifestation of a suspected systemic disease, while stage III, grade C periodontitis was retained as a descriptive characterization of the periodontal phenotype. Given the severity and unusual nature of the presentation, a multidisciplinary diagnostic work-up involving immunology, rheumatology, dermatology, and clinical genetics was undertaken. Laboratory investigations revealed markedly elevated serum immunoglobulin E (IgE) levels (1,359 kIU/L). Clinical exome sequencing subsequently identified two variants of uncertain significance (VUS) in the C1R and C1S genes. Pathogenic variants in both genes have previously been associated with periodontal Ehlers-Danlos syndrome (pEDS); however, the variants identified in the present patient remain classified as VUS. Despite the absence of a definitive molecular diagnosis, the clinical phenotype was strongly suggestive of pEDS. Periodontal therapy was provided to control inflammation and preserve oral function. Clinical follow-up suggested a reduction in inflammatory signs, including gingival inflammation and bleeding; however, the response appeared limited to soft-tissue parameters. Although partial improvement in inflammatory signs was observed during follow-up, long-term periodontal stability and attachment gain could not be determined because comprehensive periodontal charting was unavailable. Severe early-onset periodontitis may represent an important clinical clue to an underlying systemic, genetic, or connective tissue disorder. This case highlights the value of multidisciplinary assessment in children presenting with severe periodontal destruction and supports consideration of periodontitis as a manifestation of systemic disease in appropriate clinical contexts. General and pediatric dentists should consider prompt multidisciplinary referral when severe periodontal destruction and premature tooth loss occur during childhood.