Whole exome sequencing revealed a large deletion in EDAof a Vietnamese patient with hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia (HED) (OMIM # 305100) is a congenital genetic disorder caused by mutations in EDA (NM_001399) on chromosome X. Children with HED have the abnormal development of epidermal structures such as skin, hair, nails, teeth, and sweat glands. The present study aimed to detect mutations in EDA of a Vietnamese family with a son having only five teeth and no sweat glands, using whole exome sequencing (WES) and multiplex PCR. The results showed that patient had a deletion of exon 1 in EDA (c.2_396del), which is likely to be inherited from the healthy mother. The results will partly contribute to molecular studies on HED, helping in genetic counseling and disease treatment.

A Hybrid Oral Rehabilitation of Hypohidrotic Ectodermal Dysplasia: A Conservative Approach with Three-Year Follow-Up

This case report presents a 19-year-old male patient with hypohidrotic ectodermal dysplasia, having a chief complaint of multiple missing teeth. Atraumatic extraction of the teeth with hopeless prognosis was done, and teeth with grade 2 mobility were submerged using cast dowel and coping. Following this, incremental increase in the vertical dimension was made using removable flexible splint of two-millimeter thickness. After facebow transfer and making appropriate eccentric bite records to program the semiadjustable articulator, wax-up was done at the desired vertical dimension (VD). The upper arch was finally restored using a long-span fixed partial denture and lower arch using bilateral attachment (Rhein 83) retained cast removable partial denture as a definitive prosthesis. Therefore, in conditions like hypodontia or oligodontia caused due to ectodermal dysplasia, attachment retained removable partial denture may prove beneficial by effectively distributing the occlusal forces. In clinical scenarios where implant is not feasible or not opted by the patient, this combination treatment may be a viable option.

Dimensional Changes in Dental Arches after Complete Dentures Rehabilitation of a Patient with Hypohidrotic Ectodermal Dysplasia: A Case Report with 18-Year Follow-Up

Background: This case report presents the dimensional changes in dental arches in a patient with hypohidrotic ectodermal dysplasia (HED) after complete denture rehabilitation, with an 18-year follow-up period. Case report: The patient had complete anodontia and was successfully rehabilitated with conventional complete dentures at 3, 4, 5, 7, 9, 12, 16, and 21 years of age. Each successive denture was larger and contained more and larger teeth so as to accommodate for the increase in the size of the developing jaw. A series of diagnostic casts were used to measure the dimensional changes in the arch length and width of the alveolar ridge. Cast analysis revealed that there was an increase in arch length and width in both the maxilla and mandible over time. Cephalometric analysis of craniofacial development was performed at 21 years of age, and suggested protrusion of the maxilla and mandible. Conclusions: The absence of teeth due to HED did not affect the dimensional changes in dental arches after complete denture rehabilitation from childhood to adulthood. The prosthetic treatment improved the patient’s social integration and enabled the development of normal dietary habits, speech, and facial esthetics, which in turn led to improved quality of life.

Rehabilitation of ectodermal dysplasia patient with a telescopic denture in the maxilla and mandibular implant assisted over-denture: a case report

Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of her jaws. Maxillary telescopic-overdenture and implant-supported mandibular prostheses were fabricated to improve mastication, speech, and aesthetics of the patient.

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

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.