Version May 2024
| Condition | Oral manifestations | Systemic manifestations | Cause |
| Hypophosphatasia (MIM #146300 & #241500) | Tooth loss as early as one year of age, minimal soft-tissue inflammation, large dental pulp chambers, variable enamel hypoplasia | Decreased alkaline phosphatase, severe cases can have bone manifestations, bowing of legs, short stature | Autosomal dominant and recessive forms, mutations in tissue-nonspecific alkaline phosphatase gene |
| Papillon-Lefèvre syndrome (MIM #245000) | Tooth loss beginning second to third year of life, marked soft-tissue inflammation, generalized alveolar bone loss | Hyperkeratosis of palmar and plantar surfaces | Autosomal recessive trait, mutation in cathepsin gene |
| Cyclic neutropenia (MIM #162800) | Severe erythematous gingivitis, can have rapid periodontal breakdown and bone loss | Recurrent fevers, malaise, sore throat, anorexia, 21-day periodicity of decreased neutrophils | Autosomal dominant trait, defect in neutrophil elastase |
| Chediak-Higashi syndrome (MIM #214500) | Ulcerations of oral mucosa, severe gingivitis, glossitis, periodontal breakdown and bone loss | Partial albinism, neutropenia, recurrent infections of skin and respiratory tract, frequently lethal before age seven years | Autosomal recessive trait, deficiency of natural killer lymphocytes |
| Langerhans cell histiocytosis (histiocytosis X) (MIM 604856) | Ulcerative gingivitis, root exposure, and premature tooth mobility, typically starting with posterior teeth | Bone lesions, multiorgan involvement, seborrheic scalp rash, diabetes insipidus, growth retardation | Proliferation of Langerhans cell (dendritic histiocytes), immunologic dysregulation |
| Aggressive periodontitis (MIM #170650) | Variable gingival inflammation (localized minor to generalized severe), alveolar bone loss, typically starting with posterior teeth | Autosomal dominant trait, leukocyte defect involving chemotaxis or phagocytosis |
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