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 |