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


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.


CONCLUSIONS
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.
Department of Pediatric Dentistry, Faculty of Dentistry, University Hospital, Strasbourg, France; Reference Center for Dental Manifestations of Rare Diseases, Faculty of Dentistry, University Hospital, Strasbourg, France. Electronic address: francois.clauss@chru-strasbourg.fr.
Francois
F
Clauss
Reference Center for Dental Manifestations of Rare Diseases, Faculty of Dentistry, University Hospital, Strasbourg, France.
Etienne
E
Waltmann
Department of Maxillofacial Surgery, University Hospital, Strasbourg, France.
Philippe
P
Barriere
Reference Center for Genodermatosis, Necker Hospital, AP-HP, Paris, France.
Smaïl
S
Hadj-Rabia
Department of Pediatric Dentistry, Faculty of Dentistry, University Hospital, Strasbourg, France; Reference Center for Dental Manifestations of Rare Diseases, Faculty of Dentistry, University Hospital, Strasbourg, France.
Marie-Cecile
MC
Manière
Reference Center for Dental Manifestations of Rare Diseases, Faculty of Dentistry, University Hospital, Strasbourg, France; Faculty of Dentistry, University of Montreal, Canada.
Matthieu
M
Schmittbuhl
D000848:Anodontia / Q000534:rehabilitation*; D064592:Autografts / Q000637:transplantation; D001862:Bone Resorption / Q000473:pathology; D016025:Bone Transplantation / Q000379:methods; D015921:Dental Implants; D019094:Dental Prosthesis, Implant-Supported; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005500:Follow-Up Studies; D006085:Graft Survival; D006579:Heterozygote; D006801:Humans; D008297:Male; D008334:Mandible / Q000601:surgery; D008437:Maxilla / Q000002:abnormalities / Q000601:surgery; D009065:Mouth Rehabilitation / Q000379:methods*; D020125:Mutation, Missense / Q000235:genetics*; D016348:Osseointegration / Q000502:physiology; D010641:Phenotype; D051153:Wnt Proteins / Q000235:genetics*
D015921:Dental Implants; C484142:WNT10A protein, human; D051153:Wnt Proteins
Bone graft; Implants; WNT10A Hypohidrotic Ectodermal Dysplasia