Disease relevance of Tooth Abnormalities

• As in humans with HED, Ta mice exhibit hypohidrosis, characteristic defects of hairs and tooth abnormalities [1].
• Osteomatous radiopaque lesions were evident in 75.7 percent of FAC patients (focal type: 62.2% and wide spread type: 13.5%), odontomes in 29.7% peripheral osteomas in 13.5%, unerupted teeth in 16.2% and supernumerary unerupted teeth in 16.2% [2].

High impact information on Tooth Abnormalities

• These findings suggest that while the Hyp bone and teeth abnormalities partially correct after PHEX gene transfer, additional factors and/or sites of PHEX expression are likely critical for the elaboration of the appropriate molecular signals that alter renal phosphate handling and vitamin D metabolism in this disorder [3].
• The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome [4].
• In addition, tooth abnormalities associated with several kinds of human diseases that cause mutations in the extracellular matrix, as well as the molecular mechanisms of the basement membrane and enamel matrix during tooth morphogenesis, are not clearly understood [5].
• Angel shaped phalangeal dysplasia, hip dysplasia, and positional teeth abnormalities are part of the brachydactyly C spectrum associated with CDMP-1 mutations [6].
• Characteristic phenotypic features (degree of leg deformities, growth failure, tooth abnormalities, tubular reabsorption of phosphate, serum phosphate and 1,25-dihydroxyvitamin D3 concentrations, head length and hearing defect in some cases) were assessed in relation to the type and localisation of 29 different PHEX gene mutations [7].

Anatomical context of Tooth Abnormalities

• Severe hypodontia of the permanent dentition with bilateral dilated odontomes in the upper lateral incisor region. A case report [8].

Gene context of Tooth Abnormalities

• The excised specimens consisted of cystic sacs mostly containing calcified materials with or without tooth-like structures which were histologically diagnosed as odontomes in 10 cases [9].

References