The girl with an imperfect smile

During our conversation, she keeps covering her mouth with her hand. For more than a decade, Sandra Anyango has grappled with Amelogenesis Imperfecta, a condition that has made her insecure about her teeth.

Her struggle began when she went to hospital with a broken tooth, a dentist diagnosed a weak enamel, predicting that her teeth would continue deteriorating over time. He, therefore, suggested removing all her teeth and getting crowns as a permanent fix. A second opinion recommended temporary fillings until she turned 20 since her jawbone and face were still developing.

“I have dreamt of having new teeth. This journey is not merely about aesthetics; it is about gaining the confidence to smile freely without feeling the need to hide or cover my mouth. Though getting implants and the subsequent adjustments will take time, I am dedicated to embracing this change,” Anyango says, adding that she currently has to endure significant pain while eating and cannot eat some foods.

“My teeth have suffered from severe cavities, and some have been extracted but the cost of dental care is prohibitive. Some procedures have been poorly executed, causing ongoing discomfort,” she adds.

Emotional struggles

Despite Anyango having a supportive family and friends who encourage her to embrace her uniqueness, many people do not understand her condition.

“I have to keep explaining why my teeth are the way they are. Many advise me to have them removed but I need them for chewing and must manage the pain until a permanent solution is found,” she says.

This year, Anyango has resolved to transform her smile and invest in a brighter future. This, she says, will cost her about $13,200 which is equivalent to Shs52.8m.

“The dental surgeon recommended a full mouth reconstruction, but I cannot afford the money required because I am a student. Your assistance could make a significant difference in restoring my ability to smile with confidence and live without pain,” she pleads.

Genetic

Dr Boris Mpeeka, a dental surgeon at Mulago National Referral Hospital, says Amelogenesis imperfecta (AI) is a rare genetic condition affecting the development of the enamel, the hard, outer layer of teeth. People with amelogenesis imperfecta have teeth that may be abnormally small, discoloured, pitted, or grooved and prone to rapid wear and breakage.

The different types of AI are based on the stage of enamel development that is affected and the clinical appearance of the teeth.

Hypoplastic type: The enamel does not form properly, resulting in a thin and often pitted enamel. Teeth may appear smaller than normal with grooves or pits (rough texture). Teeth often appear yellow or brown due to the underlying dentin showing through.

Hypomaturation type: Here, the enamel forms in sufficient quantity but does not mature properly, leading to softer enamel that can chip easily. Teeth may appear mottled or have a brownish colour and may have a mottled, opaque appearance with white, yellow, or brown spots. The enamel may chip away easily and teeth may be sensitive to temperature changes.

Hypocalcified type: The enamel is of normal thickness but is poorly calcified, making it soft and easily worn down. Teeth often appear yellow-brown and may have a rough texture. They are also prone to rapid wear and breakage. The enamel may be dull and chalky, often appearing yellow-brown. Severe sensitivity is common.

Hypomaturation-Hypoplastic type with Taurodontism:

This type involves a combination of hypomaturation and hypoplastic defects, often with enlarged pulp chambers (taurodontism). Teeth may be discoloured, and enamel may be thin or underdeveloped. The teeth show a combination of enamel that is thin and poorly mineralised. The teeth may have an unusual shape and size and are prone to sensitivity and decay.

Causes

Amelogenesis imperfecta is primarily caused by mutations in specific genes involved in enamel formation. These mutations can affect the structure, composition, and mineralisation of the enamel. AI can also be inherited. The gene associated with AI is located on the X chromosome, making it more likely for males to be affected.

Teeth affected by AI may have a discolouration appearing yellow, brown, or grey. Due to the thin or soft enamel, teeth can be more sensitive to temperature changes and prone to cavities. They may be irregularly shaped, smaller and have pits or grooves. Teeth with AI usually wear down more quickly, leading to chipping, cracking, and even loss of tooth structure.

Diagnosis

Dentists often identify AI based on the appearance of teeth. X-rays can reveal the extent of enamel thickness and the structure of teeth. Genetic testing will also help in identifying mutations in specific genes to confirm the diagnosis and help determine the inheritance pattern.

Complications 

Dr Mpeeka says discoloured or distorted teeth can cause self-esteem issues and social anxiety, especially in children and teenagers. The weakened enamel can make eating and chewing difficult, leading to nutritional challenges.

“Increased tooth sensitivity can cause pain and discomfort, especially with hot, cold, or sweet foods and drinks. This is because the middle part of the tooth called dentine has straw-like connections that take stimuli to the pulp (the part of the tooth with nerves),” he says.

Teeth affected by AI are more prone to decay, fractures, and wear. The visible effects of AI, along with frequent dental visits and procedures can contribute to anxiety, depression, and a reduced quality of life.

Management

With appropriate dental care, many people with AI can maintain a functional and aesthetically pleasing dentition, although lifelong dental management may be necessary.

Full mouth reconstruction, also known as full mouth rehabilitation, is a comprehensive dental treatment approach that involves rebuilding and restoring all of the teeth in both the upper and lower jaws. For patients with amelogenesis imperfecta (AI), full mouth reconstruction is often necessary due to the significant enamel defects and the resulting functional and aesthetic issues.

Full coverage crowns are commonly used to encase the entire tooth, protecting it from further damage and improving its appearance. Crowns are often made of materials such as porcelain or zirconia for durability and aesthetics.

Porcelain veneers may be used to cover the front surface of teeth, particularly in cases where the enamel defects are primarily aesthetic. On average, a crown costs between Shs700,000 to Shs1.2m while a veneer costs Shs350,000.

Composite bonding can be used to repair minor chips and cracks or to improve the appearance of discoloured teeth.

Teeth affected by Amelogenesis imperfecta are more prone to decay, fractures, and wear.