scholarly journals Implant restoration of hypodontia resulting from ectodermal dysplasia: a case report

2021 ◽  
Vol 49 (12) ◽  
pp. 030006052110674
Author(s):  
Qintian Zhu ◽  
Yixuan Jiang ◽  
Jilan Yu ◽  
Renfei Wang
Keyword(s):  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Abnormal Development ◽  
Sweat Glands ◽  
Bone Augmentation ◽  
Success Rates ◽  
Missing Teeth ◽  
Her Family ◽  
Disease Case ◽  
Implant Restoration

Background Ectodermal dysplasia is a congenital genetic disorder with a prevalence of 1:10,000 to 1:100,000. The clinical features of ectodermal dysplasia include sparse hair, missing teeth, and abnormal development of the skin, sweat glands, and other tissues and organs. Since 1985, dentists have used implants to correct tooth defects in patients with ectodermal dysplasia with reasonable success rates. However, there is still no widely accepted treatment for the oral defects caused by this disease. Case summary: This report describes a 19-year-old female patient with congenital ectodermal dysplasia, congenital absence of most of her teeth, and mandibular and maxillary dysplasia. The patient and her family were concerned about the patient’s growth and development, so she came to our hospital to restore her missing teeth. During several months of treatment, the patient underwent bone augmentation surgery for the maxilla and mandible, implant placement, a root repositioning flap, and free gingival grafting, which was completed in five stages. The patient completed the permanent implant restoration, and the desired results were achieved. Conclusion The patient’s mouth was restored through the use of bone augmentation and soft tissue grafting techniques, enabling appropriate function and appearance.

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

2021 ◽  
Vol 63 (12) ◽  
pp. 1-4
Author(s):  
Phuong Anh Nguyen ◽  
◽  
Thuy Duong Nguyen ◽  
Van Hai Nong ◽  
◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Large Deletion ◽  
Abnormal Development ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Whole Exome ◽  
Exon 1

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.

Treatment strategy for patients with ectodermal dysplasia

2005 ◽  
Vol 29 (2) ◽  
pp. 113-118 ◽  
Author(s):  
Jack W. Martin ◽  
Nicholas Tselios ◽  
Mark S. Chambers
Keyword(s):  
Ectodermal Dysplasia ◽  
Treatment Plan ◽  
Abnormal Development ◽  
Sweat Glands ◽  
Clinical Report ◽  
Stomatognathic System ◽  
Ectodermal Dysplasias ◽  
Different Types ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Hereditary Condition

Ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal development of the skin, hair, nails, sweat glands, and the stomatognathic system. There are many different types of ectodermal dysplasia of which X-linked anhidrotic ectodermal dysplasia is the most common. Multiple genes have been discovered to cause ectodermal dysplasias. With any form of ED, children may display a range of symptoms and challenging rehabilitation. This clinical report presents the treatment plan for a young patient with ED and anodontia requiring prosthetic restoration. J Clin Pediatr Dent 29(2): 113-118,2005

scholarly journals Anhydrotic Ectodermal Dysplasia – A Cause of Prolonged Fever in Infant

2020 ◽  
Vol 26 (2) ◽  
pp. 58-62
Author(s):  
Mihai Larisia ◽  
Cuzic Viviana ◽  
Pantazi Cosmin ◽  
Ungureanu Adina ◽  
Frecus Corina ◽  
...  
Keyword(s):  
Body Temperature ◽  
Ectodermal Dysplasia ◽  
The Body ◽  
Abnormal Development ◽  
Sweat Glands ◽  
High Body ◽  
Prolonged Fever ◽  
Heterogenous Group ◽  
Diagnostic Difficulties ◽  
Anhidrotic Ectodermal Dysplasia

Abstract Ectodermal dysplasia is a group of conditions characterized by abnormal development of ectodermal tissues including the skin, hair, teeth and sweat glands. Anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine Syndrome) is only one of this large and heterogenous group, but is the most frequent. An inability to sweat (anhidrosis) can lead to high body temperature (hyperthermia), because the body cannot cool itself by evaporating sweat. The authors present the diagnostic difficulties in an infant with this condition, in which prolonged fever was the dominant symptom.

scholarly journals Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Reema AlNuaimi ◽  
Mohammad Mansoor
Keyword(s):  
Quality Of Life ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Middle Eastern ◽  
Sweat Glands ◽  
Aesthetic Outcome ◽  
Prosthetic Rehabilitation ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Fixed Prosthesis

Abstract Background Ectodermal dysplasia is a rare genetic disorder that affects ectodermally derived structures, including teeth, nails, hair, and sweat glands. Hypohidrotic ectodermal dysplasia is the most common type, with oligodontia being the most striking dental feature. Prosthetic rehabilitation in children with ectodermal dysplasia is an important step toward improving their overall quality of life. The fixed prosthesis has the advantages of being more stable in the mouth with good child compliance and a good aesthetic outcome. Case presentation Our patient was a 5-year-old Middle Eastern boy with oligodontia caused by ectodermal dysplasia. He was managed by fabrication of an upper functional space maintainer and a lower fixed partial denture to restore occlusion, masticatory function, aesthetics, and overall quality of life. Conclusions The use of the fixed prosthesis in children is a new and evolving treatment modality that resolves many of the issues caused by removable prostheses. It accommodates jaw growth in the mandible, reduces the need to remake the prosthesis, and has an overall better aesthetic outcome.

scholarly journals Hereditary Anhidrotic Ectodermal Dysplasia - A case report

2014 ◽  
Vol 5 (1) ◽  
pp. 51-53
Author(s):  
Mumtahina Setu ◽  
Syed Khairul Amin ◽  
Kuntol Roy ◽  
SM Nahid Morshed
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Autosomal Recessive Inheritance ◽  
Sweat Glands ◽  
Recessive Inheritance ◽  
Nail Dystrophy ◽  
Medical College ◽  
Palmoplantar Hyperkeratosis ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbances in the ectoderm of the developing embryo. The triad of nail dystrophy, alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by a lack of sweat glands and a partial or complete absence of primary and/or permanent dentition. Ectodermal dysplasia is a rare genetic disorder and X-linked recessive inheritance is most commonly seen. But we are reporting a rare case of autosomal recessive inheritance of Ectodermal dysplasia in here. DOI: http://dx.doi.org/10.3329/akmmcj.v5i1.18845 Anwer Khan Modern Medical College Journal Vol. 5, No. 1: January 2014, Pages 51-53

scholarly journals Hypohidrotic ectodermal dysplasia - a case report / Hipohidrotska ektodermalna displazija – prikaz slučaja

2011 ◽  
Vol 3 (3) ◽  
pp. 109-112
Author(s):  
Svetlana Popadić ◽  
Andreja Vujanac ◽  
Biljana Arsov ◽  
Petar Ivanovski ◽  
Miloš Nikolić
Keyword(s):  
Case Report ◽  
Growth And Development ◽  
Ectodermal Dysplasia ◽  
Abnormal Development ◽  
Sweat Glands ◽  
Facial Features ◽  
Palmoplantar Keratoderma ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Ectodermal Dysplasias ◽  
Sparse Hair

Abstract Ectodermal dysplasias are a large group of disorders characterized by developmental dystrophies of one or more ectodermal structures. Hypohidrotic ectodermal dysplasia is a rare genodermatosis associated with abnormal development of sweat glands, teeth, and hair. Its incidence is 1:100.000 newborns. The full expression of X-recessive forms are only seen in males, while female heterozygotes are moderately or very slightly affected. The disease is characterized by sparse hair, oligodontia, and reduced or absent sweeting, light hair, distinctive facial features, palmoplantar keratoderma. We report an 11-year-old boy with hypohidrotic ectodermal dysplasia. Despite extensive skin, teeth and hair manifestations, his physical and psychomotor growth and development were normal.

Ectodermal dysplasia—an unusual dental presentation

2006 ◽  
Vol 30 (1) ◽  
pp. 55-57 ◽  
Author(s):  
F Ryan ◽  
C Mason ◽  
J Harper
Keyword(s):  
Unusual Case ◽  
Clinical Presentation ◽  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Variable Degree ◽  
Missing Teeth ◽  
Permanent Molar ◽  
Wide Range ◽  
Tooth Form ◽  
Rare Group

Ectodermal dysplasia (ED) is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of ED. Missing teeth or abnormal tooth form may be the first indicator of the presence of the disorder. There is typically hypodontia with microdontia.We present an unusual case of ED with severe hypodontia and macrodontia affecting all first permanent molar teeth.We also consider the classification and presentation of this disorder.

scholarly journals Hypohidrotic Ectodermal Dysplasia in Two Siblings with Missing Teeth: A Dental Perspective

2013 ◽  
Vol 2 (2) ◽  
pp. 130-133
Author(s):  
Pankaj Khurana ◽  
Kamal Kumar Singhal
Keyword(s):  
Social Interaction ◽  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Missing Teeth

ABSTRACT Hereditary ectodermal dysplasia (ED) is a rare inherited disorder involving skin, hair, nails, sweat glands and teeth. Different combination of defects may give rise to variable phenotypes. ED is divided into two common types depending whether sweat glands are involved: hypohidrotic form and hidrotic form. Hypohidrotic ED in two brothers aged 12 and 9 years is being reported. The importance of early prosthetic management in restoring function, esthetics and facilitating social interaction has been discussed. How to cite this article Khurana P, Talwar M, Singhal KK. Hypohidrotic Ectodermal Dysplasia in Two Siblings with Missing Teeth: A Dental Perspective. Int J Experiment Dent Sci 2013; 2(2):130-133.

A Retrospective 3- to 5-Year Study of the Reconstruction of Oral Function Using Implant-Supported Prostheses in Patients With Hypohidrotic Ectodermal Dysplasia

2014 ◽  
Vol 40 (5) ◽  
pp. 571-580 ◽  
Author(s):  
Duohong Zou ◽  
Yiqun Wu ◽  
Xu Dong Wang ◽  
Wei Huang ◽  
Zhiyong Zhang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Survival Rates ◽  
Bone Augmentation ◽  
Success Rates ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Cumulative Survival ◽  
Oral Function ◽  
Implant Placement ◽  
Zygomatic Implants ◽  
Congenitally Missing Teeth

The aim of this study was to evaluate oral function rehabilitation in patients with hypohidrotic ectodermal dysplasia (HED) using implant-supported prostheses based on bone augmentation. From September 2005 and March 2009, 25 HED patients were chosen for clinical data analysis in this study. The criteria for patient selection included the following: the display of clinical features of HED, the number of congenitally missing teeth (>5), the patient age (>16 years), the patient's willingness, and the patient's tolerance for bone graft surgery and implant placement. Follow-up evaluations were initiated from the time of implant prosthetic placement and scheduled annually for 3–5 years. The effects of oral function reconstruction were assessed based on the cumulative survival and success rates of implants, the health of the peri-implant area, and the degree of patient satisfaction. Twenty-five HED patients received 169 conventional implants and 10 zygomatic implants (179 total implants). During 3–5 years of post-loading evaluations, 5 of the 179 implants failed and 3 implants were removed. The 3-year success and cumulative survival rates were 97.2% and 98.3%, respectively. Furthermore, periodontal probing and radiographic assessments showed that the 3-year incidence of peri-implantitis was 4.5%. Finally, HED patients expressed high degrees of satisfaction with their facial contours, masticatory function, pronunciation ability, and comfort with the implant-supported prostheses. The results of this 3- to 5-year retrospective study indicate that the oral function of HED patients can be effectively reconstructed using bone augmentation and implant-supported prostheses; however, longer term results are warranted in the future.

scholarly journals Thermoregulation in Ectodermal Dysplasia: A Case Series

2019 ◽  
Vol 16 (22) ◽  
pp. 4514
Author(s):  
Heather Massey ◽  
James House ◽  
Michael Tipton
Keyword(s):  
Temperature Control ◽  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Case Series ◽  
Gene Mutations ◽  
Sweat Glands ◽  
Case Review ◽  
High Infant Mortality ◽  
The Individual ◽  
Skin Temperatures

Ectodermal dysplasia (ED) is a rare genetic disorder occurring as a consequence of gene mutations that code for the ectoderm of the developing embryo and results in numerous disorders of varying severity. The lack of functioning sweat glands in those affected with ED leads to high infant mortality and frequent complaints of hyperthermia. Temperature control of two adolescents affected with ED was assessed by conducting heat and exercise exposures while monitoring insulated auditory canal (Tac) and skin temperatures, sweating rates, and skin blood flow. One participant was able to sweat and regulate his Tac while a second participant could not regulate Tac without a cooling intervention. The heterogeneous nature of ED, and these cases highlight the need for a case-by-case review of temperature control of individuals affected with ED. This will determine cooling strategies that would be of most benefit to the individual.

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