Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: Report of a case and literature review

作者：Clauss Francois^*; Waltmann Etienne; Barriere Philippe; Hadj Rabia Smail; Maniere Marie Cecile; Schmittbuhl Matthieu

来源：Journal of Cranio-Maxillofacial Surgery, 2014, 42(6): E346-E351.

DOI：10.1016/j.jcms.2014.01.037

• WNT10A Hypohidrotic Ectodermal Dysplasia
• Bone graft
• Implants

Purpose: To report the dento-craniofacial phenotype of a family affected by a WNT10A HED and to describe the implant-based oral rehabilitation of a patient presenting a severe oligodontia linked to this mutation. A molecular hypothesis concerning the involvement of Wnt-b-catenin pathway in implant osteointegration will be proposed.
Material and methods: Patients affected by a WNT10A mutation were included from a large group of HED patients. WNT10A gene was sequenced in second intention for patients negative for EDA-EDAR-EDARADD mutations. Dento-craniofacial phenotype was described based on clinical and radiological data.
Results: Severe oligodontia was observed in the patient affected by a compound heterozygous mutation of WNT10A gene. CT exams showed marked maxillary bone hypoplasia in the posterior areas with a sub-normal mandible treatment consisted in the placement of 4 mandibular implants and in 2 implant-supported bridges. In the maxilla, an autogenous bone graft was indicated. The post-operative radiological follow-up showed partial bone resorption of the grafts, treated with ramus bone shaving and a membrane, followed by the placement of 4 maxillary implants.
Conclusion: Patients affected by WNT10A HED require multi-disciplinary dental diagnosis and treatment. A close post-operative radiological follow-up appears necessary given the biological functions of Wnt-beta-catenin in bone repair.

• 出版日期2014-9