scholarly journals Mecanismos moleculares de la amelogénesis imperfecta. Una revisión de los genes ENAM, AMBN, FAM83H, MMP20 y KLK4

2021 ◽  
Vol 38 ◽  
Keyword(s):  
Amelogenesis Imperfecta

Manejo integral del paciente con amelogénesis imperfecta

2019 ◽  
Vol 18 (1) ◽  
pp. 25-31
Author(s):  
Mónica Valdivieso Vargas-Machuca ◽  
Lais Estefani Ccorimanya-Fernández ◽  
Susana Elizabeth Nieto-Quispe ◽  
Evelyn Marilyn Alfaro-Canevaro ◽  
Yamille Yovanna Ceccaño-Quintana
Keyword(s):  
Amelogenesis Imperfecta

La Amelogénesis imperfecta (AI) es una alteración hereditaria que afecta el esmalte y, se caracteriza por hipomineralización o hipoplasia con decoloración, sensibilidad y fragilidad de los dientes. Se reporta el caso de un paciente de sexo femenino, de 5 años, no receptivo, es referido por emergencia a la Clínica Dental Cayetano Heredia debido a dolor intenso. Durante la anamnesis, el padre de familia refiere que tanto él, como el segundo hijo, poseen la misma alteración dentaria que su menor hija. Evaluación clínica radiográfica: el paciente presenta: lesiones cavitadas múltiples, necrosis pulpar, hipoplasia del esmalte. El diagnóstico presuntivo del defecto del esmalte: Amelogénesis Imperfecta. Se indica al padre de familia las alternativas de tratamiento, y este opta por un tratamiento integral bajo anestesia general. Habiendo extraído la pieza 7.5, como parte del tratamiento, ésta se lleva al servicio de patología para su análisis. Diagnóstico final: Amelogénesis Imperfecta tipo hipoplásico. Tratamiento: consiste en: profilaxis y aplicación de flúor barniz c/2 meses, pulpectomía, cementación de coronas de acero preformadas y restauraciones con resina. Discusión: Es importante averiguar si los miembros de la familia muestran alteraciones dentales (malformación hereditaria). Cuando se confirma el diagnóstico de AI, se debe considerar un tratamiento integral temprano. El tiempo de vida disminuida de las restauraciones directas en pacientes con AI, sugiere un mantenimiento constante de las restauraciones hasta que puedan realizarse restauraciones protésicas definitivas. En el caso de grandes destrucciones de dientes primarios, están indicadas coronas de acero inoxidable. Conclusiones: La AI es un trastorno hereditario que se debe diagnosticar en una etapa temprana y llevar un tratamiento integral con controles periódicos frecuentes. La utilización de coronas de acero preformadas para dientes posteriores y resinas para dientes anteriores podrían ser las mejores alternativas en pacientes que sufren AI.

scholarly journals Management of Amelogenesis Imperfecta in Childhood: Two Case Reports

2021 ◽  
Vol 18 (13) ◽  
pp. 7204
Author(s):  
Mirja Möhn ◽  
Julia Camilla Bulski ◽  
Norbert Krämer ◽  
Alexander Rahman ◽  
Nelly Schulz-Weidner
Keyword(s):  
Case Reports ◽  
Treatment Options ◽  
Permanent Dentition ◽  
Amelogenesis Imperfecta ◽  
Structural Defects ◽  
Type I ◽  
Oral Rehabilitation ◽  
Self Confidence ◽  
Health Quality ◽  
Masticatory System

Amelogenesis imperfecta (AI) is defined as an interruption of enamel formation due to genetic inheritance. To prevent malfunction of the masticatory system and an unaesthetic appearance, various treatment options are described. While restoration with a compomer in the anterior region and stainless steel crowns in the posterior region is recommended for deciduous dentition, the challenges when treating such structural defects in mixed or permanent dentition are changing teeth and growing jaw, allowing only temporary restoration. The purpose of this case report is to demonstrate oral rehabilitation from mixed to permanent dentition. The dentition of a 7-year-old patient with AI type I and a 12-year-old patient with AI type II was restored under general anesthesia to improve their poor aesthetics and increase vertical dimension, which are related to problems with self-confidence and reduced oral health quality of life. These two cases show the complexity of dental care for structural anomalies of genetic origin and the challenges in rehabilitating the different phases of dentition.

scholarly journals Skeletal open bite with amelogenesis imperfecta treated with compression osteogenesis: a case report

2019 ◽  
Vol 15 (1) ◽  
Author(s):  
Hiroki Mori ◽  
Takashi Izawa ◽  
Hitoshi Mori ◽  
Keiichiro Watanabe ◽  
Takahiro Kanno ◽  
...  
Keyword(s):  
Case Report ◽  
Open Bite ◽  
Amelogenesis Imperfecta ◽  
Skeletal Open Bite

A Novel Missense Mutation (p.P52R) in Amelogenin Gene Causing X-linked Amelogenesis Imperfecta

2007 ◽  
Vol 86 (1) ◽  
pp. 69-72 ◽  
Author(s):  
M. Kida ◽  
Y. Sakiyama ◽  
A. Matsuda ◽  
S. Takabayashi ◽  
H. Ochi ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Dental Enamel ◽  
Fluorescence Analysis ◽  
Hereditary Disease ◽  
Amelogenesis Imperfecta ◽  
X Ray Diffraction ◽  
Japanese Family ◽  
X Ray ◽  
Amelogenin Gene

Amelogenesis imperfecta (AI) is a hereditary disease with abnormal dental enamel formation. Here we report a Japanese family with X-linked AI transmitted over at least four generations. Mutation analysis revealed a novel mutation (p.P52R) in exon 5 of the amelogenin gene. The mutation was detected as heterozygous in affected females and as hemizygous in their affected father. The affected sisters exhibited vertical ridges on the enamel surfaces, whereas the affected father had thin, smooth, yellowish enamel with distinct widening of inter-dental spaces. To study the pathological cause underlying the disease in this family, we synthesized the mutant amelogenin p.P52R protein and evaluated it in vitro. Furthermore, we studied differences in the chemical composition between normal and affected teeth by x-ray diffraction analysis and x-ray fluorescence analysis. We believe that these results will greatly aid our understanding of the pathogenesis of X-linked AI.

scholarly journals A Case of Amelogenesis Imperfecta of Deciduous and All Permanent Teeth.

2001 ◽  
Vol 42 (1) ◽  
pp. 45-50 ◽  
Author(s):  
HIROSHI SEKIGUCHI ◽  
HARUNOBU TANAKAMARU ◽  
KIYOSHI MINAGUCHI ◽  
YUKIO MACHIDA ◽  
MASASHI YAKUSHIJI
Keyword(s):  
Amelogenesis Imperfecta ◽  
Permanent Teeth

scholarly journals Amelogenesis imperfecta

2007 ◽  
Vol 2 (1) ◽  
Author(s):  
Peter JM Crawford ◽  
Michael Aldred ◽  
Agnes Bloch-Zupan
Keyword(s):  
Amelogenesis Imperfecta

Electron-optic analyses of hypomineralized amelogenesis imperfecta in man

1972 ◽  
Vol 17 (4) ◽  
pp. 771-IN29 ◽  
Author(s):  
J.J. Sauk ◽  
W.R. Cotton ◽  
H.W. Lyon ◽  
C.J. Witkop
Keyword(s):  
Amelogenesis Imperfecta ◽  
Electron Optic
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