Table 1: Periodontal diseases associated with genetic disorders.

Disorder Etiology Clinical oral signs/symptoms Therapy
Familial and cyclic neutropenia ELANE mutation, cyclical decrease in the number of circulating neutrophils Oral ulcers
Gingival inflammation
Severe periodontitis
Mechanical debridement monthly and during neutropenic episodes chlorhexidine rinsing
Down syndrome Trisomy chromosome 21, reduced chemotaxis and impaired phagocytosis Gingivitis
Necrotizing ulcerative gingivitis
Severe periodontitis
Tooth mobility
Preventive treatment and periodontal therapy
Leukocyte adhesion deficiency syndrome Defects in adhesion receptors of the white blood cells and impaired phagocytosis Type 1: Severe gingival inflammation
Rapidly progressive periodontitis
Type 2: Chronic severe periodontitis
Periodontal treatment with or without antibiotics, often followed by extraction of primary or permanent teeth
Papillon-Lefèvre syndrome Mutation of gene encoding for cathepsin-c, impaired neutrophil function Aggressive periodontitis
Premature loss of teeth
Conventional periodontal treatment with antibiotics according to the dentition involved and extraction of primary teeth 6 months prior to eruption of permanent teeth if indicated
Chédiak-Higashi syndrome Mutation in LYST gene Oral ulcerations
Severe gingivitis
Early-onset periodontitis
Challenging periodontal therapy
Histiocytosis syndromes Abnormal proliferation of bone marrow-derived histiocytes Periodontitis
Alveolar bone loss replaced by soft tissue
Oral ulceration
Premature loss of teeth
Conventional periodontal therapy and surgical therapy in mandibular lesions in some cases
Glycogen storage disease Type 1b: Deficiency of glucose-6-phosphate translocase Oral ulcers
Hyperplastic gingiva
Periodontal infections
Prolonged bleeding
Preventive treatment and control of gingival disease
Severe congenital neutropenia ELANE and HAX1 mutations Gingival inflammation
Increased probing depth
Severe alveolar bone loss in both dentitions
Scaling and root planing, use of antimicrobial agents
Cohen syndrome Mutation in the VPS13B gene Periodontal disease Prevention and conventional periodontal therapy
Ehlers-Danlos syndrome (Type IV and VIII) Type IV: Mutation in type III collagen
Type VIII: mutation in chromosome 12p13
Severe periodontitis
Prolonged bleeding
Delayed healing
Chemical and mechanical plaque control
Hypophosphatasia Mutation in tissue nonspecific alkaline phosphatase activity Absence of root cementum
Premature exfoliation of deciduous teeth
Possible extraction of primary teeth and more conservative treatment on permanent teeth