Prosthetic rehabilitation of a hypohidrotic ectodermal dysplasia patient: A case report

Abstract

Aim: Ectodermal dysplasia is a rare hereditary disease that arises from a developmental disorder of 2 or more ectoderm-derived tissues. Ectodermal dysplasia is seen in 3 different types: anhidrotic, hypohidrotic, and hidrotic. Its anhidrotic and hypohidrotic types are the most common. This study presents the intraoral findings and dental treatment approach of a case diagnosed with hidrotic ectodermal dysplasia that demonstrates the typical characteristics of the disease, such as anodontia, hypohydrosis (reduced sweating), hypotrichosis (sparse hair), and loss of vertical dimension.

Methodology: A 5-year-old male patient presented to the clinic of the Prosthetic Dental Treatment Department of the School of Dentistry at Dicle University on 25.10.2020 with complaint of missing teeth. A genetic analysis conducted in 2016 showed that he was a homozygous carrier of the p.Cys148Arg (c.442 T>C) mutation on the 5th exon of the ectodysplasin-A receptor (EDAR) gene. The mutation detected in the patient was associated with ectodermal dysplasia. An extraoral clinical examination revealed sparse hair, eyebrows, and eyelashes; soft, smooth, and dry skin; thin, linear wrinkles around the eyes and the lips; drooping, thickened lips; a sunken nose; fractured nails; hyperthermia due to lack of sweat glands; hyperkeratosis in the skin and soles of the feet; 2 nipples on one side of the chest; and reduced vertical facial height. An intraoral examination revealed anodontia; there were no teeth on the maxilla or the mandible and no radiographically identified tooth germ. Dry mouth due to a lack of sufficient saliva was another finding.

Conclusion: In this case report, in the presence of anodontia, a removable total prosthesis, which is a non-invasive treatment option, was applied. Production of endosseous implants was postponed for a later time following the patient’s growth and development.

How to cite this article: Gökçe D, Ayna E, Seyfioğlu Polat Z. Prosthetic rehabilitation of a hypohidrotic ectodermal dysplasia patient: A case report. Int Dent Res 2021;11(Suppl.1):292-8. https://doi.org/10.5577/intdentres.2021.vol11.suppl1.43

Linguistic Revision: The English in this manuscript has been checked by at least two professional editors, both native speakers of English.