Amelogenesis imperfecta pigmented hypomaturation


Type of disease: Rare conditions

Amelogenesis imperfecta pigmented hypomaturation is a specific type of Amelogenesis Impefecta (AI). AI is an inherited group of conditions in which the teeth are abnormally small, discolored, pitted or grooved, and brittle. This particular type of AI is characterized by underdeveloped tooth enamel. Tooth enamel is normally the visible part of the human tooth and is the hardest substance in the human body. The color of tooth enamel normally ranges from light yellow to grayish or bluish white. Symptoms of this type of AI includes having a creamy opaque yellow or brown color to the teeth, rough and brittle teeth, as well as pits and grooves in the tooth surface. Symptoms are variable among affected individuals. Treatments for this condition include bonding porcelain or composite resin to existing tooth enamel.. Orthodontic therapy, braces, and crowns, can also help fix teeth spacing and misaligned jaw bites. This type of AI can be inherited or passed through families in an autosomal dominant, recessive or X-linked manner. Autosomal dominant means the individual only needs one copy of the affected gene from one of the parents for the person to have this condition. Autosomal recessive means the individual needs two copies of the changed gene, one from each parent, to have this condition. X-linked inheritance means the affected gene causing AI is present on the X chromosome (one of the sex chromosomes). Because males only have one X chromosome, this condition affects males more than females. Females, having two X chromosomes, tend to have milder symptoms or no symptoms. Severe cases of affected females however, have been reported. Talk to your doctor or orthodontist to see if you or your child has been diagnosed with this condition to find the right treatment options for you.

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