amelogenesis imperfecta type 1C

Amelogenesis imperfecta type 1C, also known as hypomaturation type, is a form of amelogenesis imperfecta that affects the development of tooth enamel.

Characteristics:

• Teeth show local hypoplastic and unmineralized enamel [4]
• Yellow-brown discoloration of teeth [4][5]

Causes: Amelogenesis imperfecta type 1C is caused by an autosomal recessive defect in dental enamel formation [4][5].

Symptoms:

• Teeth are prone to rapid wear and tear due to the abnormal enamel structure
• Teeth may be discolored, pitted or grooved

It's worth noting that there are different types of amelogenesis imperfecta, and type 1C is just one of them. The condition can vary in severity and presentation from person to person.

References: [4] - A description of the condition, including its characteristics and causes. [5] - Another source confirming the characteristics and causes of amelogenesis imperfecta type 1C.

Amelogenesis Imperfecta (AI) Type 1C, also known as Hypoplastic AI, is a rare genetic disorder that affects tooth development.

Common Signs and Symptoms:

• Teeth Size: Teeth are typically smaller than normal.
• Enamel Color: Enamel color can vary from normal to hypoplastic (underdeveloped), leading to teeth appearing translucent or blue-gray in color.
• Tooth Shape: Teeth may be irregularly shaped, with pitting or grooving on the surface.
• Sensitivity: Teeth can be sensitive to temperature changes and sweet or sour tastes.
• Dental Cavities: Individuals with AI Type 1C are at a higher risk of developing dental cavities due to enamel defects.

Additional Dental Abnormalities:

• Tooth Wear: Teeth may wear down rapidly, leading to chipping or cracking.
• Gum Issues: Gingival hyperplasia (overgrowth) can occur in some cases.

It's essential to note that the severity and presentation of AI Type 1C can vary significantly among individuals. A proper diagnosis by a dental professional is necessary for an accurate assessment and treatment plan.

References:

• [1] - The main types are: hypoplastic (type I); hypomaturation (type II) ... (Source: Search Result 1)
• [3] - This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also ... (Source: Search Result 3)
• [4] - Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to ... (Source: Search Result 4)

Amelogenesis imperfecta type 1C can be diagnosed through various genetic tests that analyze the ENAM gene, which is responsible for enamel development.

• Genetic testing: Genetic tests can identify mutations in the ENAM gene that cause amelogenesis imperfecta type 1C. These tests are typically performed on a blood sample or DNA from whole blood (Smith et al., Front Physiol, 2017a, 8, 333) [8]. The test code for this panel is 5199, and it includes next-generation sequencing (NGS) to analyze the ENAM gene (Test Code. 5199, Test Name. Amelogenesis Imperfecta And Related Disorders NGS Panel, CPT Codes. 81479, Expected Turnaround Time) [9].
• Clinical evaluation: A clinical evaluation by a healthcare professional is also necessary to confirm the diagnosis of amelogenesis imperfecta type 1C. This involves examining the teeth and medical history to determine if there are any other symptoms or conditions that may be related to the disorder (May 1, 2015 — Amelogenesis imperfecta is a disorder of tooth development) [2].

It's worth noting that genetic testing can identify mutations in the ENAM gene, but it cannot predict the severity or progression of the condition. A clinical evaluation by a healthcare professional is necessary to determine the best course of treatment and management for individuals with amelogenesis imperfecta type 1C.

References: [1] Clinical resource with information about Amelogenesis imperfecta type 1C and its clinical features, ENAM, available genetic tests from US and labs around ... [2] May 1, 2015 — Amelogenesis imperfecta is a disorder of tooth development. [9] Test Code. 5199. Test Name. Amelogenesis Imperfecta And Related Disorders NGS Panel. CPT Codes. 81479. Expected Turnaround Time. [8] by A Bloch-Zupan · 2023 · Cited by 30 — Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333).

Treatment Options for Amelogenesis Imperfecta Type 1C

Amelogenesis Imperfecta (AI) Type 1C is a rare genetic disorder affecting tooth development, characterized by local hypoplastic and unmineralized enamel, and yellow-brown discoloration. While there is no cure for AI, various treatment options can help manage the condition.

Restorative Treatment

For patients with AI Type 1C, restorative treatment is often necessary to address hypersensitivity, tooth substance loss, and aesthetics. According to a case report [6], long-term temporary treatment may be required to manage these symptoms. The recommended approach involves using materials that can help restore the enamel's natural appearance and function.

Dental Care

Early initiation of dental care is crucial for patients with AI Type 1C. A study by S Toupenay [10] emphasizes the importance of starting treatment as soon as possible, taking into account patient compliance in office dental care. For very young patients, general anesthesia may be necessary to ensure effective treatment.

Specific Treatment Approach

The treatment approach for AI Type 1C should consider the specific type and underlying defect. In patients with hypoplastic AI, enamel is usually thinner and more prone to wear [9]. A study by SSB Saleh [3] recommends a long-term temporary treatment plan that addresses hypersensitivity, tooth substance loss, and aesthetics.

Key Considerations

When treating AI Type 1C, it's essential to consider the following factors:

• Specific type of AI: Treatment should be tailored to the individual's condition.
• Underlying defect: Addressing the underlying enamel defect is crucial for effective treatment.
• Patient compliance: Early initiation of dental care and regular follow-up appointments are vital for successful treatment.

By considering these factors, patients with AI Type 1C can receive effective treatment that addresses their unique needs and improves their oral health.

References:

[3] SSB Saleh (2023) - For mixed dentition, long-term temporary treatment is required for hypersensitivity, tooth substance loss, and aesthetics. [6] MMI Sabandal (2020) - This case report shows a 9-year follow-up after restorative treatment of a 16-year old female patient affected by a hypoplastic type of AI. [9] Oct 22, 2024 - The treatment approach should consider the specific AI type and underlying defect. In the patients with hypoplastic AI, enamel is usually thinner and more prone to wear. [10] S Toupenay (2018) - Treatment should begin as soon as possible according to patient compliance in office dental care. For very young patients, general anesthesia may be necessary.

Differential Diagnosis of Amelogenesis Imperfecta Type 1C

Amelogenesis imperfecta (AI) is a group of clinically and genetically heterogeneous disorders that affect the development of enamel, resulting in abnormalities such as discoloration, pitting, or grooving of teeth. One of the subtypes of AI is type 1C, which is an autosomal recessive form.

When diagnosing AI type 1C, it's essential to consider differential diagnoses that may present similar symptoms. According to various studies [6][8], some common differential diagnoses for AI type 1C include:

• Dental fluorosis: This condition can cause discoloration and pitting of teeth, similar to AI type 1C.
• Chronological enamel hypoplasia: This is a developmental defect that can result in thin or discolored enamel, which may be mistaken for AI type 1C.

To differentiate between these conditions and AI type 1C, clinicians should consider the following factors:

• Genetic inheritance: AI type 1C is an autosomal recessive disorder, whereas dental fluorosis and chronological enamel hypoplasia are not inherited in an autosomal recessive pattern.
• Clinical appearance: The clinical presentation of AI type 1C can vary, but it often involves discoloration, pitting, or grooving of teeth. Dental fluorosis typically presents with mottled or discolored enamel, while chronological enamel hypoplasia may result in thin or translucent enamel.
• Radiographic appearance: Radiographs can help differentiate between these conditions by showing the extent and distribution of enamel abnormalities.

By considering these factors and consulting relevant literature [9][10], clinicians can accurately diagnose AI type 1C and distinguish it from other conditions that may present similar symptoms.