Amelogenesis imperfecta: Report of a case and review of literature

Abstract

Amelogenesis imperfecta (AI) is a diverse collection of inherited diseases that exhibit quantitative or qualitative tooth enamel defects in the absence of systemic manifestations. Also known by varied names such as Hereditary enamel dysplasia, Hereditary brown enamel, Hereditary brown opalescent teeth, this defect is entirely ectodermal, since mesodermal components of the teeth are basically normal. The AI trait can be transmitted by either autosomal dominant, autosomal recessive, or X-linked modes of inheritance. Genes implicated in autosomal forms are genes encoding enamel matrix proteins, namely: enamelin and ameloblastin, tuftelin, MMP-20 and kallikrein – 4. This article presents a case reported to Dr. D. Y. Patil, Dental College and Hospital, Pune, India, along with a review of this often seen clinical entity.

Amelogenesis imperfecta: Four case reports

“…Deviation from this pattern may lead to AI. [36] Mutation or alteration in any of the genes encoding specific enamel proteins such as Enamelin gene (ENAM), Amelogenin gene (AMELX), Kallikrein 4 gene (KLK4), Matrix Metalloproteinase 20 gene (MMP-20), and Distal-less homeobox 3 gene (DLX3) have been linked with AI. [7] Studies showed that AI is familial and can be inherited as autosomal dominant, autosomal recessive, or x-linked dominant and x-linked recessive.…”

“…Restorative aspects in the primary dentition includes giving glass ionomer restorations and stainless steel crowns, in the mixed dentition stainless steel crowns. [1237]…”

“…[12] Hypoplastic AI represents 60 to 73% of all cases, hypomaturation AI represents 20 to 40%, and hypocalcification AI represents 7%. [3]…”

Immediate Desensitization in Teeth Affected by Amelogenesis Imperfecta

“…The treatment of these cases is related to many factors, including age, damage severity, aesthetics, socioeconomic status, psychosocial aspects, and functional and social demands (14,16,17).…”

Oral Rehabilitation of a Young Adult with Amelogenesis Imperfecta: A Clinical Report

“…This is entirely ectodermal, since mesodermal component of the teeth are basically normal. Amelogenesis imperfecta trait can be transmitted by either autosomal dominant, autosomal recessive or X-linked mode of inheritance [5]. The other causes of amelogenesis imperfecta include febrile illness or vitamin deficiency, local infection or trauma, fluoride ingestion, congenital syphilis, birth injury, premature birth or idiopathic factors [6].…”