Dentinogenesis imperfecta
| Classification according to ICD-10 | |
|---|---|
| K00.5 | Hereditary disorders of tooth structure, not elsewhere classified - Dentinogenesis imperfecta |
| ICD-10 online (WHO version 2019) | |
Dentinogenesis imperfecta ( DI , from Latin dentes 'tooth' and Greek γένεσις, genesis 'emergence' and Latin imperfecta 'imperfect') is an autosomal dominant inherited malformation / structural disorder of tooth dentitions that occurs in approximately 1 in 8000 people and is characterized by severe abrasion which entails teeth.
Synonymous name is Capdepont syndrome
Variants of the DI
Variants based on Shields, et al . (1973).
Although this classification was usually used to subdivide the course forms, the delimitation of the individual types is still very confusing and is subject to current research. For example, it has been found that Type II and Type III DI and Type II dentinal dysplasia are all caused by mutating the same allele. In addition, there are numerous other syndromes that have phenotypes similar to DI .
- Type I (Shields DI Type I) manifests itself as a partial disease of osteogenesis imperfecta (OI)
- Type II (Shields DI type II or hereditary opalescent) and type III (Brandywine type / shell teeth) also occur without genetic predispositions, such as due to the OI.
- Type I has been shown to result in progressive hearing loss in addition to dental anomalies.
- Type III was first discovered in a population in Brandywine ( USA ), where this type appears to be limited.
Symptoms
The degree of intensity of the symptoms in different types, even within the same family, is very variable. As a rule:
- Discoloration of teeth (blue-gray; yellow-brown)
- Tooth enamel transparency
- Teeth are prone to rapid wear and tear ( abrasion )
- Tooth crowns extremely dense
- Tooth root extremely tight and dense
- Defect in the enamel-dentin junction (DEJ); extremely soft dentine
- Obliteration of the pulp chamber and canals
causes
The DSPP gene (dentine sialophosphoprotein) has been identified as the cause of DI types II and III. The DSPP gene is largely responsible for the production of three proteins and is essential in tooth development. The mutation changes these proteins in such a way that the arrangement of the dentin, which is responsible for the central protective tooth layer, is disturbed. The dentin becomes atypical as the odontoblasts (dentin-forming cells) are replaced by other cells. This leads to an excessively high water content in the tooth (60%), with an extremely low mineral content in the tooth enamel and dentin at the same time.
Treatment options
Missing treatment can lead to complete abrasion of the tooth down to the gums. The aim of the treatment is to minimize abrasion as much as possible, to rehabilitate teeth that show extreme signs of wear, to optimize aesthetics, and to prevent consequential damage. Usually the molars are provided with dental crowns, this helps to reduce tooth wear and to stabilize the upper and lower jaw. Stainless steel crowns are placed on the primary posterior teeth and the anterior teeth are treated with tooth-colored filling material. This is required for all permanent teeth.
In the context of syndromes
In individual syndromes , this disease can be a feature, s. Odontoid chondrodysplasia .
Web links
- Dental Implant Center, "dentinogenesis imperfecta" (Engl.)
- Osteogenesis Imperfecta Foundation: "Dentinogenesis Imperfecta" (Eng.)
- WrongDiagnosis: "Dentinogenesis imperfecta, type I" (Engl.)
- Pregnancy & Parenting at iVillage: "Dentinogenesis imperfecta" (Eng.)
- Genetics Home Reference: "dentinogenesis imperfecta" (Engl.)
- Dental lexicon: Keyword "Dentinogenesis imperfecta"
- q = dentinogenesis% 20h% C3% bone loss & f = false
Individual evidence
- ^ Dentinogenesis imperfecta. In: Orphanet (Rare Disease Database).
