Management of Amelogenesis Imperfecta: A 15-Year Case History of Two Siblings.

OBJECTIVE: Amelogenesis imperfecta (AI) is a heterogenous genetic disorder that interferes with normal enamel formation in the absence of systemic disorders. The patients' main concerns are caries susceptibility, poor esthetics, and generalized sensitivity. There is a broad clinical spectrum, from discolorations to consequent enamel alterations. This case report describes the 15-year case study and the full-mouth rehabilitation of two siblings affected by a hypocalcified AI. Clinical Considerations: In these two patients, conservative care with stainless steel crowns and direct composite restorations was undertaken to restore function and esthetics and to reduce sensitivities in primary and mixed dentitions. The difficulties in monitoring resulted in severe infectious complications (dental abscess with cutaneous fistula), important dental defects, and loss of spaces with subsequent malocclusion. In the young adult dentition, they were treated by extractions, root canal therapies, and new restorations: stainless steel crowns for permanent molars, direct composite restorations (with strip crowns) for incisors and maxillary canines (to improve the crown morphology as well as to mask the discolorations and the malpositions), and adjusted composite crown molds using a thermoforming procedure for premolars and the mandibular canines. The main difficulties were rapid tooth surface loss, bonding to atypical enamel, developing dentition, long-term follow-up. CONCLUSION: Restoring function and esthetics in AI-affected patients is a challenge from primary to adult dentition. Early corrections are essential to avoid dental damage and for psychological benefits. This clinical report highlights the adhesive rehabilitation for anterior and premolar areas and the difficulty of patient follow-up.

Case report: Early prosthetic treatment in children with ectodermal dysplasia.

BACKGROUND: Ectodermal dysplasia affects at least two ectoderm-derived structures such as hair, nails, skin, sweat glands and teeth. The dentition in hypohidrotic ectodermal dysplasia (XHED) is altered with many phenotypes ranging from oligodontia to anodontia. No consensus exists on the ideal age for beginning of prosthetic rehabilitation. CASE REPORT: A 2-year-old male patient with severe oligodontia in the primary dentition was referred for examination, evaluation and treatment. The child exhibited classical XLHED features with sparse hair, absence of eyelashes and eyebrows, severe hypohidrosis associated with heat intolerance and skin dryness. Radiographic examination revealed only intra-osseous maxillary primary canines. He presented an apparent prognathism of partially functional cause, retrusion of the maxillary and lateral deviation of the mandible. TREATMENT: The rehabilitation protocol was similar to an edentulous adult but extra care was taken to avoid discomfort to this very young patient. For example, alginate was used for the impressions for its neutral taste, ease of use, and quick setting speed. An hour was given for the child to adapt to the maxillary prosthesis and then the mandibular one was fitted. Denture adhesive was used to maximize retention. The child succeeded in eating some dry biscuits and drinking some water, demonstrating the exceptional potential for adaptation children usually present with at this very young age. FOLLOW-UP: Three months later, the prognathic tendency had vanished and he could eat hard food. Periodic recall visits were scheduled and at six months and normalization of oral functions was almost complete. Three years later, a new set of prostheses was made very easily as the child knew the protocol and was used to dentures wearing. CONCLUSIONS: Prosthetic rehabilitation must be done at the earliest age possible in order to maintain and correct the oral functions and prevent growth anomalies. It makes the subsequent treatment steps easier. Early rehabilitation and follow-up seems to be one of the keys to a successful treatment that help these children overcome their handicap and integrate them into society.

Periodontal conditions in Williams Beuren syndrome: a series of 8 cases.

BACKGROUND: Williams Beuren syndrome (WBS) is an unusual hereditary connective tissue disease caused by a microdeletion at position 7q11-23 and a haploinsufficiency at the elastin gene. The most frequent specific features are elf-like face, alteration of cognitive functions and cardiovascular diseases including isolated supravalvular aortic stenosis. A number of clinical findings have been reported, but none of the studies evaluating this syndrome consider the oral cavity. It is equally surprising that the gingival tissue, which carries a perfectly structured elastic fibre network, has not yet been investigated. It is important to verify whether subjects affected by WBS are more susceptible to periodontal disease than healthy subjects who are not that much affected, for periodontal disease may have deleterious effects on the cardiovascular system. METHODS: In an attempt to address this issue, the oral manifestations of 8 patients (ages from 5 to 12 years) with WBS have been investigated: dental examination, periodontal examination (gingival phenotype, plaque control record, gingival index, bone quality). RESULTS: All patients had oral parafunction, tooth number abnormalities and malocclusions. Average gingival height and width were greater than normal. Plaque index was always very high except for one patient, but the gingival inflammation was not linked to the quantity of clinical plaque index. There was no obvious loss of attachment. CONCLUSION: As with collagen, elastin is a structural macromolecule of the gingiva. These components play an important role in gingival function and in the resistance of the periodontium to daily aggressions. Unlike genetic diseases characterized by impairment of collagen macrofibrils, it is suggested that the hemizygous gene encoding elastin does not result in periodontal disease. In addition there is an existence of a possible concordance between the elastin gene haploinsufficiency and the periodontal phenotype. There might be some adaptive process to this deficiency.