Genetic Disorders Associated with Gingival Enlargement

Abstract

A number of genetic disorders present with gingival manifestations which may be in the form of desquamative, ulcerative lesions or an enlargement of the gingiva. Gingival enlargement is a broad term that refers to gingival overgrowth without cause suggestion i.e. a strictly clinical description of the condition avoiding the flawed pathologic implications of terms used such as hypertrophic gingivitis or gingival hyperplasia. In this chapter we will summarize gingival enlargement that can be attributed to gene pathology. Gingival enlargement may present in some genetic disorders secondary to certain treatments not to actual gene expression e.g. Cystinosis secondary to treatment with cyclosporine-A, or epilepsy treated with phenytoin. This category of genetic disorders will not be discussed in this chapter, but should be considered in the differential diagnosis. Genetic disorders associated with gingival enlargement fall into four main categories according to etiology, clinical presentation and histopathological findings (Table 1). This classification is suggested as a guiding tool in differential diagnosis. The first category is Hereditary Gingival Fibromatosis (HGF), which represents a heterogeneous group of disorders characterized by progressive enlargement of the gingiva. HGF may appear as an isolated entity i.e. as autosomal dominant Gingival Fibromatosis or as part of a syndrome. These syndromes are rather rare but they all have gingival fibromatosis as a constant feature. The second category is Lysosomal Storage Disorders which are a group of disorders characterized by deposition of macromolecules anywhere in the body including the gingiva leading to gingival enlargement. Gingival enlargement in this category is not always a constant feature. It ranges from being common to being a rare feature. The third category is referred to as Vascular Disorders while the last category includes syndromes characterized by the presence of characteristic dental abnormalities.