amelogenesis imperfecta type 3C

Amelogenesis imperfecta type 3C, also known as hypocalcified enamel in both primary and secondary dentition, is a rare genetic disorder that affects the development of tooth enamel.

Characteristics:

• The enamel is rough and yellow-brown in color [2][4]
• Hypocalcification is present in both primary and secondary teeth [1][3][5][7][9]
• Tooth surfaces can be smooth to rough, with some teeth having thin or absent enamel [8]

Definition: Amelogenesis imperfecta type 3C is a condition characterized by defective enamel formation, resulting in hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored [10]

This rare disorder affects the development of tooth enamel, leading to characteristic yellow-brown discoloration and rough texture. The exact cause of amelogenesis imperfecta type 3C is not well understood, but it is believed to be related to genetic mutations.

References: [1] - Search result 2 [2] - Search result 2 [3] - Search result 4 [4] - Search result 4 [5] - Search result 5 [7] - Search result 7 [8] - Search result 8 [9] - Search result 9 [10] - Search result 10

Amelogenesis imperfecta type 3C is characterized by hypocalcified enamel in both the primary and secondary dentition [2]. The enamel is rough and yellow-brown in color, and can be thin in some teeth and absent in others [3]. This condition affects the development of tooth enamel, leading to teeth that are prone to rapid wear and breakage.

Some common signs and symptoms of amelogenesis imperfecta type 3C include:

• Teeth with a yellow or brown discoloration
• Enamel that is rough or pitted
• Teeth that are small or misshapen
• Rapid wear and breakage of teeth
• Sensitivity to hot or cold temperatures

It's worth noting that amelogenesis imperfecta type 3C can occur alone, without any other signs and symptoms, or it can be part of a syndrome that affects multiple parts of the body [4]. In some cases, individuals with this condition may also experience other dental abnormalities, such as delayed or absent tooth eruption, ectopic eruption pathway, and pulp and gingival complications [9].

References:

[2] Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. [3] This type of AI shows crowns with a yellow to brown color. The enamel tends to be thin in some teeth and absent in others. The tooth surfaces are smooth to ... [4] Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. [9] by M de la Dure-Molla · 2014 · Cited by 106 — The phenotype is characterized by severe enamel hypoplasia, delayed or absent tooth eruption, ectopic eruption pathway, and pulp and gingival ...

Based on the provided context, it appears that there are various diagnostic tests and findings associated with Amelogenesis Imperfecta (AI) Type III C.

Characteristics of AI Type III C

• Hypocalcified enamel in both primary and secondary dentition [10]
• Enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides [10]

Diagnostic Tests and Findings

• Genetic testing for AI: knowledge and attitudes of paediatric dentists [12]
• Diagnostic findings and treatment concepts for AI [12]
• Mineralization defects like AI are often of hereditary origin [14]
• No defined therapy recommendations available for patients suffering from AI [14]

Other Relevant Information

• Amelogenesis imperfecta is an inherited dental disease that affects one in 14,000 to 16,000 children in the U.S. [11]
• Those born with AI do not produce functional proteins required to create and lay down effective enamel, resulting in discolored, misshapen, or fragile teeth [11]

References

[10] Context result 10: Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. [11] Context result 11: Amelogenesis imperfecta is an inherited dental disease that affects one in 14,000 to 16,000 children in the U.S. [12] Context result 12: Genetic testing for amelogenesis imperfecta: knowledge and attitudes of paediatric dentists. [14] Context result 14: Mineralization defects like amelogenesis imperfecta are often of hereditary origin.

Based on the provided context, it appears that there are limited treatment options available for Amelogenesis Imperfecta (AIH), and no specific information is available about drug treatment for AIH type 3C.

However, according to search result [2], treatments of three patients with AIH from childhood to early adulthood were reported. The treatments included various therapeutic options such as medications, surgical procedures, lifestyle changes, and physical therapy. However, the context does not specify what medications or treatments were used for AIH type 3C.

Search result [7] mentions that some common treatment options may include medications, surgical procedures, lifestyle changes, and physical therapy. However, it does not provide specific information about drug treatment for AIH type 3C.

Search result [9] states that Amelogenesis Imperfecta is a heterogeneous group of genetic conditions characterized by defects in enamel formation and affecting both dentitions. However, it does not provide any information about drug treatment for AIH type 3C.

It's worth noting that search result [5] mentions that currently, there are no defined therapy recommendations available for patients suffering from Amelogenesis Imperfecta.

Therefore, based on the provided context, I could not find any specific information about drug treatment for Amelogenesis Imperfecta type 3C. However, it appears that various therapeutic options may be considered on a case-by-case basis.

• Treatment options may include medications, surgical procedures, lifestyle changes, and physical therapy [7].
• No defined therapy recommendations are available for patients suffering from Amelogenesis Imperfecta [5].
• Various therapeutic options were discussed according to patients' age and type of enamel alteration in search result [8].

Citations

Differential Diagnosis of Amelogenesis Imperfecta Type 3C

Amelogenesis imperfecta (AI) type 3C, also known as hypocalcified AI, is a rare genetic condition characterized by enamel of normal thickness on newly erupted and unerupted teeth. However, differential diagnosis must be made with other enamel developmental defects caused by environmental factors.

Key Considerations:

• Fluoride exposure: Enamel developmental defects caused by fluoride exposure can present similarly to AI type 3C. It is essential to rule out fluoride-induced enamel hypoplasia in patients presenting with hypocalcified enamel.
• Tetracycline staining: Tetracycline staining, a condition caused by exposure to tetracycline antibiotics during tooth development, can also result in discolored and hypomineralized enamel. A thorough medical history is necessary to distinguish between AI type 3C and tetracycline-induced enamel defects.
• Genetic mutations: While genetic mutations are the primary cause of AI type 3C, it is crucial to consider other genetic conditions that may present with similar clinical features.

Diagnostic Approach:

To accurately diagnose AI type 3C, a comprehensive evaluation should include:

1. Clinical examination: A thorough oral examination to assess the extent and severity of enamel hypocalcification.
2. Medical history: A detailed medical history to rule out exposure to fluoride or tetracycline antibiotics during tooth development.
3. Genetic testing: Genetic testing may be necessary to confirm the presence of mutations in the FAM83H gene, which is associated with AI type 3C.

References:

• [4] by S Toupenay · 2018 · Cited by 73 — Differential diagnosis must be made with enamel developmental defects caused by environmental factors (fluoride, tetracycline???) [1] or ...
• [10] by T Leban · 2022 · Cited by 6 — This report illustrates a variant in the AMELX gene that was not previously reported to be causative for AI as well as an additional variant in the FAM83H gene.