Violaceous Pretibial Plaques: A Clue to Periodontal Variant of Ehlers-Danlos Syndrome
Abstract
Periodontal Ehlers-Danlos Syndrome (pEDS) is a rare autosomal dominant connective tissue disorder with fewer than 200 cases reported. In addition to typical Ehlers-Danlos Syndrome (EDS) features of joint hypermobility, skin fragility and tissue friability, it is characterized by periodontal abnormalities, leading to periodontal bone and teeth loss. The article presents a case of a 10-year-old boy diagnosed with pEDS, exhibiting typical symptoms of violaceous pretibial plaques, hypermobile joints, and periodontal disease with mobile teeth. Additionally, the patient displayed atypical features observed in other types of connective tissue diseases such as mitral valve prolapse, severe myopia, esotropia, tortuous optic nerves and partial empty turcica, suggesting that the phenotypic spectrum of this syndrome may be broader than previously understood. Interestingly, neither of the parents met the diagnostic criteria for pEDS. The article highlights the importance of timely diagnosis of pEDS, as early intervention is crucial in preventing premature tooth loss, and potential systemic complications associated with the syndrome.
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