Amelogenesis imperfecta results from genetic mutations affecting enamel quantity and quality.
Amelogenesis imperfecta (AI) is a genetic disorder affecting the enamel formation of teeth. It leads to hypoplastic, hypocalcified, or hypomatured enamel, which may be discolored, brittle, or missing entirely.
Types of Amelogenesis Imperfecta:
Type I (Hypoplastic): Thin enamel that is underdeveloped, leading to small, discolored teeth with normal mineralization.
Type II (Hypocalcified): Normal enamel thickness, but it is poorly mineralized, causing it to be soft, prone to decay, and easily wear away.
Type III (Hypomatured): Enamel has normal thickness and mineralization, but it is softer and prone to surface pitting or mottling.
Type IV (Hypoplastic-Hypomatured): A combination of hypoplastic and hypomatured features, resulting in enamel that is both thin and poorly mineralized.
Inheritance Pattern:
Autosomal dominant: Most common inheritance pattern (Type I, II, IV).
Autosomal recessive: Seen in some forms of AI (Type III).
X-linked: A rare pattern seen in some cases (primarily affects males).
Clinical Features:
Enamel defects: The enamel can range from thin, discolored, and pitted to completely absent.
Tooth discoloration: Teeth may appear yellow, brown, or blue-gray depending on the type.
Brittle enamel: The enamel may be prone to chipping, wear, and fracture, leading to tooth sensitivity.