Periodontal Disease Associated with Genetic Disorders

*Juan Wu, Wai Keung Leung and Weibin Sun*

#### **Abstract**

The object of this chapter was to provide an overview including relevant research progress of some genetic disorders with periodontal manifestations. A number of genetic disorders increase patient susceptibility to periodontal disease, with the latter exhibit rather rapid and aggressive presentations. Periodontal disease, perhaps could be the first detectable sign of an undiagnosed genetic disorder. It is therefore important for dental practitioners to be familiar with genetic disorders and their impact on the periodontal tissues. This chapter reviews several genetic disorders that exhibit periodontal manifestations, including hereditary gingival fibromatosis, Papillon-Lefèvre syndrome, cyclic neutropenia, Ehlers-Danlos syndrome and hypophosphatasia.

**Keywords:** cyclic neutropenia, Ehlers-Danlos syndrome, genetic disorders, hereditary gingival fibromatosis, hypophosphatasia, Papillon-Lefèvre syndrome, periodontal disease

#### **1. Introduction**

Periodontal disease is an inflammatory disease that affects the gingival tissues and periodontal attachment apparatus (cementum, periodontal membrane, and alveolar bone) that surround and support the teeth [1]. In its early stage or gingivitis, the gums become swollen and red due to inflammation. In the more serious form of periodontal disease or periodontitis, which is one common chronic infection in the human mouth, loss of periodontal supportive tissue, including gingiva, periodontal ligament and alveolar bone, were evident [2] with untreated periodontitis one of the major causes of tooth loss in adults. With reference to current advances in knowledge from both biological and clinical studies since 1999 or the last International Classification of Periodontal Diseases, the 2017 World Workshop Classification system for periodontal diseases was refined and revised accordingly [3–5]. In the 2017 classification system, gingival diseases include dental biofilminduced gingivitis and non-dental biofilm-induced gingival diseases. Periodontitis classification include necrotizing periodontal diseases, periodontitis, and periodontitis as a manifestation of systemic disease [4, 5]. The treatment of periodontal disease with systemic disease at the present date remained a significant challenge. It is paramount that correct diagnosis is made so appropriate treatment can be planned and delivered. The purpose of this chapter was to review the current literature with selected case reports concerning periodontal disease associated with genetic disorders, including hereditary gingival fibromatosis, Papillon-Lefèvre

syndrome, cyclic neutropenia, Ehlers-Danlos syndrome, and hypophosphatasia. The etiology of these genetic disorders, prevalence and incidence, the clinical oral manifestations and the possible therapeutic approaches will be discussed.
