Table 3 Dental-craniofacial manifestations of skin, mucosa and soft tissue abnormality-related rare diseases
From: Dental-craniofacial manifestation and treatment of rare diseases
Rare diseases | Aetiology | Major manifestations | Dental-cranio-facial manifestations | Incidencea | Onset periodb |
|---|---|---|---|---|---|
Hereditary epidermolysis bullosa | Defect in attachment between the epidermis and dermis of the skin | Hands and feet blisters at the site of rubbing | Intraoral blistering with or without scar formation, oral vestibule; Enamel hypoplasia and/or caries | 38.6%–94.8% 18.1–100% | Perinatal period Early childhood |
Peutz–Jeghers syndrome | Mutations in the LKB1 gene | Benign hamartomatous polyps in the gastrointestinal tract; skin hyperpigmented macules in hand and feet | Hyperpigmented macules in lip and oral mucosa (Gingiva, hard palate and inside of the cheek). | 90%–95% | Infanthood |
Mucopolysaccharidosis | Absence or malfunctioning of lysosomal enzymes | Developmental delay, intellectual disabilities, short stature; impaired motor function; hearing loss; respiratory distress, obstructive sleep apnoea; enlarged or diseased heart valves | High-arched palate, hypertrophy of the alveolar processes; Enlarged tongue, gingiva and associated anterior open bite; Delayed tooth eruption, impacted teeth | 56.3%–85.7% 70%–86.7% 75%–85.7% | Childhood Childhood Early childhood |
Mikulicz's disease | Abnormal IgG4 deposition and related inflammation | Continuous painless lacrimal gland swelling; pulmonary interstitial fibrosis | Painless and persistent parotid, submandibular and sublingual salivary glands swelling | 54.5%–100% | Adulthood |
Primary light-chain amyloidosis | Abnormal light chains deposition | Renal failure; heart failure; enlarged liver | Macroglossia, submandibular swelling | 8%–20% | Adulthood |
