Edit concept Question Editor Create issue ticket

Amelogenesis Imperfecta

AI


Presentation

  • There were only six permanent teeth present which include the maxillary central and left lateral incisors, mandibular central incisors (CI) and left the first molar. All the teeth present appeared to be hypoplastic (Figure 1 ).[cureus.com]
  • This paper presents a case of AI of the hypoplastic rough type associated with a group of dental anomalies, and describes the prosthetic management of the patient. A 26-year-old female patient presented with a chief complaint of discolored teeth.[scielo.br]
  • Acronym AI1G Synonyms AIGFS Amelogenesis imperfecta and gingival fibromatosis syndrome Enamel-renal-gingival syndrome Enamel-renal syndrome ERS Hypoplastic amelogenesis imperfecta with nephrocalcinosis Keywords Any medical or genetic information present[uniprot.org]
  • Both the patients presented with marginal gingivitis and poor oral hygiene. When asked, parents said the sisters were used to a frequent intake of sugar through candies and juice.[medcraveonline.com]
  • In this research protocol the investigators explore the phenotype including the enamel ultrastructure and the genotype of a cohort of patients presenting AI.[clinicaltrials.gov]
Weakness
  • In both conditions, the teeth are weak and prone to breakage. Amelogenesis imperfecta is typically diagnosed by a dentist. They will take a family history and perform an oral exam to assess the enamel.[healthline.com]
  • […] delayed treatment can lead to a rapid wear of the enamel and that hypermineralization of surface dentin in patients with AI [23] causes a high degree of resistance to acids, which adversely affects the penetration of adhesive resins and gives rise to a weak[njcponline.com]
Physician
  • Years Published 1988, 1989, 1997, 1998, 2006, 2018 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional.[rarediseases.org]
Short Stature
Platyspondyly
  • AI is also associated with multiorgan syndromes like nephrocalcinosis, platyspondyly, hypothalamo-hypophyseal insufficiency, Kohlschutter syndrome and cone-rod dystrophy.[cureus.com]
Fracture
  • Nevertheless, the increasing plaque retention, due to the difficulty of properly clean the irregular surface of the teeth and the presence of subgingival fracture of dental crown, lead to recurrent marginal gingivitis.[medcraveonline.com]

Treatment

  • At the moment, there is no standard treatment for amelogenesis imperfecta. Treatment depends on the type and severity of the condition.[healthline.com]
  • Full-mouth prosthetic treatment seems to be the best treatment option. KEYWORDS: Amelogenesis imperfecta; Hypomineralization; Mineralization defect[ncbi.nlm.nih.gov]
  • Evaluation of treatment distributions of patients with AI showed that 63% experienced restorative treatment, 33% were treated with stainless steel crowns, 17% experienced endodontic treatment, 8% experienced prosthetic treatment, and 24% had the need[njcponline.com]
  • So far there is a lack of evidence on this topic and there is still no standard of care established for the treatment of AI in young patients.[medcraveonline.com]
  • We describe the successive treatment steps to help practitioners treat similar disorders.[jopdentonline.org]

Prognosis

  • Conclusions Awareness of potential association of AI with nephrocalcinosis is essential among dentists as they can early refer affected individuals to nephrology services and hence has improved prognosis.[cureus.com]
  • Along with poor oral hygiene, the factors adversely affect the prognosis of the prosthetic treatment (4,8). The oral health of our patient was maintained after conventional periodontal therapy.[scielo.br]
  • Keywords: Amelogenesis imperfecta, children, follow-up, health, prognosis How to cite this article: Ceyhan D, Kirzioglu Z, Emek T. A long-term clinical study on individuals with amelogenesis imperfecta.[njcponline.com]

Etiology

  • Wright JT: The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006, 140: 2547-2555. PubMedCentral CrossRef PubMed 49. Winter GB, Lee KW, Johnson NW, et al: Hereditary amelogenesis imperfecta.[springermedizin.de]
  • The etiology of pulpal calcification, another form of the dental anomalies, has been listed as chronic irritation, profound caries, restorations, and wears, and it has been explained to be associated with the self-repairing effort of the irritated pulp[njcponline.com]

Epidemiology

  • Epidemiology and clinical classification in a Swedish child population. Swed Dent J. 1985, 9: 157-169. PubMed 11. Witkop CJ: Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification.[springermedizin.de]
Sex distribution
Age distribution

Pathophysiology

  • Oliveira B, Kleta R, Bockenhauer D, Walsh SB: Genetic, pathophysiological, and clinical aspects of nephrocalcinosis. Am J Physiol Renal Physiol 2016; 311:F1243–F1252.[karger.com]

Prevention

  • The preventive approach was based on improvement of oral hygiene and prophylaxis with fluoride.[medcraveonline.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]
  • Optimal treatment approaches consist of early diagnosis and treatment approach and frequent dental recall appointments to prevent progressive occlusal wear or early destruction by caries.[ncbi.nlm.nih.gov]
  • Clinical diagnosis of AI is also important to prevent some diseases.[njcponline.com]
  • Desensitizing toothpaste can prevent painful sensitivity to heat and cold. Good oral hygiene is important. Genetic counseling is recommending for families of children with AI. Investigational Therapies References TEXTBOOKS Hu JC-C, Simmer JP.[rarediseases.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!