37 Amelogenesis imperfecta
After having obtained this history it is most likely that Mark has an inherited enamel defect involving enamel – amelogenesis imperfecta. However, defective enamel formation may be caused by genetic or environmental factors. The defective enamel will exhibit either hypoplasia, due to deficient matrix production, or hypomineralization, from imperfect mineralization of the matrix proteins. In hypoplasia the enamel may be thin, grooved or pitted, whereas in hypomineralization it may appear mottled but of normal thickness. The complete range of the causes of developmental abnormalities of enamel are shown in Box 37.1.
Enamel defects of genetic origin may occur either as a phenomenon primarily involving the enamel, with possible secondary effects in other dental tissues and craniofacial structures, or as a component of a more complex syndrome in which defective enamel is only one of a number of more generalized abnormalities.
Intraoral examination revealed that all the surfaces of all the erupted permanent teeth are affected by a roughness or ‘pitting’ (Fig. 37.1). The second primary molar teeth that were still present were also affected by a similar roughness that, although not as evident on visual examination, was obvious on tactile examination with a probe. There was no tooth wear.