Amelogenesis imperfecta AI is a congenital disorder which presents with a rare abnormal formation of the enamel [1] or external layer of the crown of teeth , unrelated to any systemic or generalized conditions. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel ameloblastin , enamelin , tuftelin and amelogenin as a result of abnormal enamel formation via amelogenesis. People afflicted with amelogenesis imperfecta may have teeth with abnormal color: yellow, brown or grey; this disorder can afflict any number of teeth of both dentitions. Enamel hypoplasia manifests in a variety of ways depending on the type of AI an individual has see below , with pitting and plane-form defects common. SLC24A4 encodes a calcium transporter that mediates calcium transport to developing enamel during tooth development.

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Amelogenesis imperfecta is characterized by enamel structural defects, which may severely affect dental structure in both dentitions. When accompanied by severe decay, it may impair the pulp complex requiring endodontic treatment and in case of incomplete root formation treatment becomes more complex due to pulp volume and anatomic conditions. This study aimed at reporting a clinical case of patient with amelogenesis imperfecta and with multiple incomplete root formation as a consequence.

Female patient, 12 years old, leucodermic, with painful symptoms, who has looked for dental assistance. At intraoral clinical evaluation teeth presented with shape and size changes, yellowish color, covered by a thin enamel layer with roughened surface and absent in some areas, with anterior vestibular sulcus fistula and without edema.

At radiographic evaluation, both dentitions were affected by the abnormality with delayed chronology of permanent teeth eruption.

At the end of all evaluations, patient was diagnosed with amelogenesis imperfecta, and periodontal treatment was started, followed by endodontic treatment. Amelogenesis treatment is complex, especially when in more advanced stages of dental structure destruction.

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Successful apexification with resolution of the periapical lesion using mineral trioxide aggregate and demineralized freeze-dried bone allograft. The effect of mineral trioxide aggregate on the apexification and periapical healing of teeth with incomplete root formation. Int Endod J. E-mail: armiliana hotmail. This is an Open Access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Amelogenesis imperfecta

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. A extremely rare, genetic malformation syndrome characterized by hypoplastic amelogenesis imperfecta hypoplastic dental enamel and nephrocalcinosis precipitation of calcium salts in renal tissue. Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function, recurrent urinary infections, renal tubular acidosis, and rarely to end-stage renal failure.


AmelogĂȘnese imperfeita

Amelogenesis imperfecta in a child with cerebral palsy. The authors have no conflicts of interest to declare concerning the publication of this manuscript. Amelogenesis Imperfecta AI is an inherited alteration that affects the enamel of primary and permanent teeth, with no systemic manifestations. Cerebral Palsy CP is a congenital condition that affects the central nervous system before the age of two, influencing the performance of activities usually conducted by children with normal development.

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