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Amelogenesis Imperfecta Type 1E
Amelogenesis Imperfecta Type IE

Presentation

The different amelogenesis imperfectas are challenging to diagnose and treat as they are extremely diverse in their clinical presentation and are genetically heterogeneous. [uncch.pure.elsevier.com]

History revealed that the discolouration was present from the time of eruption of the permanent teeth. [omicsonline.org]

The lower left first molar presented with horizontal bone loss and the upper incisors and right first molar presented with vertical bone loss [Figure 3]. [jisponline.com]

This type of AI is x-linked which means that the changed gene is present on the X chromosome (one of the sex chromosomes). [diseaseinfosearch.org]

Henceforth, we suspected the presenting medical condition as syndromic and following investigations were carried out to establish the definitive diagnosis of the case so that appropriate management can be rendered to the patient as well as family members [scitechnol.com]

Musculoskeletal

  • Long Arm

    Winter G.B. 1994 19 Enamel ultrastructure and protein content in X-linked amelogenesis imperfecta. ( 8361731 ) Wright J.T....Robinson C. 1993 20 Clinical features of a family with X-linked amelogenesis imperfecta mapping to a new locus (AIH3) on the long [malacards.org]

    A linkage study on a dentinogenesis imperfecta-III kindred with juvenile periodontitis (JP) has also suggested that this disease may be linked to the long arm (q) of human chromosome 4. [jisponline.com]

Treatment

Amelogenesis Imperfecta Treatment The treatment of this condition depends on the type of AI that one is suffering from. This can range from providing preventive care, such as the use of Sealants and Bonding treatment. [phaa.com]

At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition. [healthline.com]

Treatment progress After discussing the treatment plan with the patient, informed consent was obtained. Treatment was done in three phases. [jdrr.org]

[…] teeth, thereby increasing treatment duration. [nature.com]

Understanding the etiology of hereditary conditions affecting enamel and how the enamel differs from normal (amount and/or composition) will allow clinicians to better advise their patients and select optimal treatment approaches. [uncch.pure.elsevier.com]

Prognosis

including tooth sensitivity, poor esthetics, dental caries, anterior open bite, advanced dental age and/or failure of dental eruption, pre-eruptive tooth resorption, gingival inflammation, and loss of occlusal vertical dimension, the treatment and prognosis [dentodontics.com]

The first molars were deemed to be of poor long term prognosis and removed. [nature.com]

Ltd, Osaka, Japan).The prognosis for the maxillary right second molar was deemed hopeless and therefore the tooth was extracted. [j-ips.org]

Along with poor oral hygiene, factors such as patient noncompliance affect the prognosis of prosthetic treatment. 4 Esthetic crowns are sometimes used to compensate for soft enamel after thorough oral prophylaxis. [dentalaegis.com]

The early diagnosis provided by oral symptoms can lead to a better renal prognosis. References 1. Aldred MJ, Savarirayan R, Crawford PJ. Amelogenesis imperfecta: A classification and catalogue for the 21 st century. Oral Dis 2003;9:19-23. 2. [indianjnephrol.org]

Etiology

Understanding the etiology of hereditary conditions affecting enamel and how the enamel differs from normal (amount and/or composition) will allow clinicians to better advise their patients and select optimal treatment approaches. [uncch.pure.elsevier.com]

This finding suggests that many additional genes potentially contribute to the etiology of AI. [ingentaconnect.com]

[…] constriction -permanent - thistle-shaped pulp, large pulp stones Dentin dysplasia type 2 treatment -prevention -primary teeth - overdentures -permanent - increase risk for periapical lesions -endo is less complicated -developmental anomaly of unknown etiology [quizlet.com]

Hence, the present case with multiple disorders (affecting multiple organs) suggest multi- factorial etiology involving Decipher Database reported MIR4424, NTRK1, UGT2B15 MSR1 PAK6 MIAT, ARHGAP4, XG and novel MIR1256, TMSB15B, H2BFXP, H2BFWT, H2BFM genes [scitechnol.com]

Case Report Diagnosis and etiology A 22-year-old female patient presented with a chief complaint of discolored and irregular teeth as shown in [Figure 1]. Tooth shades varied from light to dark yellow. [jdrr.org]

Epidemiology

Relevant External Links for AMELX Genetic Association Database (GAD) AMELX Human Genome Epidemiology (HuGE) Navigator AMELX Atlas of Genetics and Cytogenetics in Oncology and Haematology: AMELX No data available for Genatlas for AMELX Gene The human enamel [genecards.org]

Epidemiology and clinical classification in a Swedish child population. Swed Dent J 1985;9:157-69. 3. Wright JT, Robinson C, Shore R. Characterization of the enamel ultra structure and mineral content in hypoplastic amelogenesis imperfecta. [ijsronline.net]

Epidemiology and clinical classification in a Swedish child population. Swed Dent J 1985;9:157-69. 4. Sari T, Usumez A. Restoring function and esthetics in a patient with amelogenesis imperfecta: A clinical report. J Prosthet Dent 2003;90:522-5. 5. [jdrr.org]

Epidemiology [ edit ] The exact incidence of amelogenesis imperfecta is uncertain. [en.wikipedia.org]

Understanding MIH: definition, epidemiology, differential diagnosis and new treatment guidelines. Eur J Paediatr Dent. 2013;14:204–8. PubMed 2. Cabay R. An overview of molecular and genetic alterations in selected benign odontogenic disorders. [springermedizin.de]

Pathophysiology

Discussion RTA is a condition in which there is a defect in renal excretion of H+ or reabsorption of bicarbonate or both, which occurs in the absence of impairment in glomerular filtration rate. [4] From a pathophysiological perspective RTA is classified [indianjnephrol.org]

Philippe Fournier & Ariane Berdal Université Pierre et Marie Curie-Paris, F-75006, Paris, France Benjamin Philippe Fournier, Ariane Berdal & Muriel de La Dure– Molla Centre de Recherche des Cordeliers, INSERM UMRS 1138, Laboratory of Molecular Oral Pathophysiology [bmcoralhealth.biomedcentral.com]

Prevention

CASE REPORT Year : 2013 | Volume : 3 | Issue : 1 | Page : 20-22 Restoration of function and esthetics in a patient with amelogenesis imperfecta 1 Department of Pedodontics and Preventive Dentistry, H.P. [ijsronline.net]

The genetic errors alter proteins’ structure or prevent it from being produced. As a result, teeth enamel are thin, softer, and yellowish or brownish hued. Teeth with abnormal enamel are weaker and susceptible to easy breakage. [healthmomma.com]

A mutation in any one of these genes can prevent it from making the correct protein, leading to enamel that is thin or soft. [healthline.com]

[…] common on maxilla, lateral incisors, central incisors, premolars -misshapen crown -coronal - more common -radicular - rare -dialted invagination lined by enamel on lateral surface of the root Treatment of dens in dente -depend on severity -restore to prevent [quizlet.com]

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