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

J Craniomaxillofac Surg. 2014 Sep;42(6):e346-51. doi: 10.1016/j.jcms.2014.01.037. Epub 2014 Jan 15.

Abstract

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-β-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-β-catenin in bone repair.

Keywords: Bone graft; Implants; WNT10A Hypohidrotic Ectodermal Dysplasia.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Anodontia / rehabilitation*
  • Autografts / transplantation
  • Bone Resorption / pathology
  • Bone Transplantation / methods
  • Dental Implants*
  • Dental Prosthesis, Implant-Supported*
  • Ectodermal Dysplasia / genetics*
  • Follow-Up Studies
  • Graft Survival
  • Heterozygote
  • Humans
  • Male
  • Mandible / surgery
  • Maxilla / abnormalities
  • Maxilla / surgery
  • Mouth Rehabilitation / methods*
  • Mutation, Missense / genetics*
  • Osseointegration / physiology
  • Phenotype
  • Wnt Proteins / genetics*

Substances

  • Dental Implants
  • WNT10A protein, human
  • Wnt Proteins