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 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.

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

2021 ◽  
Vol 11 (Suppl. 1) ◽  
pp. 292-298
Author(s):  
Dersim Gökçe ◽  
Emrah Ayna ◽  
Zelal Seyfioğlu Polat
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Dental Treatment ◽  
Sweat Glands ◽  
Prosthetic Rehabilitation ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Invasive Treatment ◽  
Homozygous Carrier ◽  
School Of Dentistry ◽  
Sparse Hair

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.

Full Mouth Fixed Rehabilitation of a Young Adult with Ectodermal Dysplasia: Making Mountain Out of a Molehill in The Literal Sense

2020 ◽  
Author(s):  
Vaishnavi Rajaraman
Keyword(s):  
Ectodermal Dysplasia ◽  
Treatment Plan ◽  
Sweat Glands ◽  
Congenital Diseases ◽  
Facial Esthetics ◽  
Key Factor ◽  
Full Mouth Rehabilitation ◽  
Fixed Prosthesis ◽  
Multiple Abnormalities ◽  
Hereditary Condition

The personality of an individual is often judged by his looks. A beautiful smile brings immense pleasure, not only to the viewer but also to the wearer of the smile. Time and again in dentistry, esthetics has been the prime area of focus. Prosthodontic rehabilitation also involves esthetics as its key factor, which is challenging especially in patients with congenital diseases or syndromes. Ectodermal dysplasia is one such hereditary condition associated with failure of the development of ectoderm in the embryonic stage and can cause multiple abnormalities. The ectodermal structures like skin, nails, hair, sweat glands, and teeth are particularly affected. The management of ectodermal dysplasia is quite complex and multidisciplinary owing to the abnormal morphology in craniofacial structures, a wide array of dentofacial defects, and age of the affected individuals, as most of them are very young when they report for or are evaluated for treatment. The deciduous as well as the permanent dentition in these patients may present with anodontia, hypodontia or oligodontia or combination of these. Hypodontia is one of the most common intraoral finding among these scenarios. Therefore, the affected patients obviously require absolute attention towards prosthodontic treatments throughout their developmental years till their adulthood. This report presents a case of an adult diagnosed with having ectodermal dysplasia with hypodontia. By appropriate modification and customization, the prosthodontic management was meticulously planned for the young patient which involved a full mouth rehabilitation with tooth supported fixed prosthesis in the maxillary and mandibular arch. The devised treatment plan had a key impact on the psychological, the masticatory function, speech and facial esthetics of the patient.

Different Types of Auricular Keloids and Treatment by Intralesional Cryosurgery: Best Practice for Obtaining Long-Lasting Clinical Results

Dermatology ◽  
2021 ◽  
pp. 1-10
Author(s):  
Yaron Har-Shai ◽  
Lior Har-Shai ◽  
Viktor A. Zouboulis ◽  
Christos C. Zouboulis
Keyword(s):  
Quality Of Life ◽  
Body Image ◽  
Recurrence Rate ◽  
Best Practice ◽  
Clinical Results ◽  
Psychosocial Impact ◽  
Aesthetic Outcome ◽  
The Past ◽  
Different Types

<b><i>Background:</i></b> Auricular keloids belong to the most perplexing medical conditions, which have significant psychosocial impact on the patient’s body image and quality of life. <b><i>Summary:</i></b> The article is purposed to provide dermatologists and plastic surgeons with the best proven practice using intralesional cryosurgery for the treatment of the different auricular keloid types in order to obtain superior clinical results by minimizing the probability of recurrence. In the past 20 years, the authors have developed novel procedures in order to increase the effectiveness of intralesional cryosurgery on auricular keloids, including hydrodissection, warm gauze technique, and excision of dangling skin. Long-lasting clinical results with a low recurrence rate and a satisfactory aesthetic outcome are achieved with no deformation of the ear framework.

scholarly journals First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Mario Tumminello ◽  
Antonella Gangemi ◽  
Federico Matina ◽  
Melania Guardino ◽  
Bianca Lea Giuffrè ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Pathogenic Variant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance ◽  
Clinical Potential ◽  
Genomic Variant ◽  
Eda Gene

Abstract Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis. Case presentation We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significance (VUS) c.1142G > C (p.Gly381Ala) in the EDA gene, located on the X chromosome and inherited from the healthy mother. Conclusion Despite the potential functional impact of VUS remains uncharacterized, our goal is to evaluate the clinical potential consequences of missense VUS on EDA gene. Even if the proband’s phenotype is characteristic for classic HED, further reports of patients with same clinical phenotype and the same genomic variant are needed to consider this novel VUS as responsible for the development of HED.

COPE for Adolescent Syrian Refugees in Lebanon: A Brief Cognitive–Behavioral Skill-Building Intervention to Improve Quality of Life and Promote Positive Mental Health

2018 ◽  
Vol 29 (4) ◽  
pp. 226-234 ◽  
Author(s):  
Rita Doumit ◽  
Chant Kazandjian ◽  
Lisa K. Militello
Keyword(s):  
Quality Of Life ◽  
Mental Health ◽  
Behavioral Intervention ◽  
Middle Eastern ◽  
Psychosocial Interventions ◽  
Cognitive Behavioral ◽  
Vulnerable Groups ◽  
Syrian Refugees ◽  
Cognitive Behavioral Intervention

Lebanon has the highest per-capita concentration of refugees worldwide. There is an urgent need to offer psychosocial interventions to vulnerable groups such as Syrian refugee adolescents. To assess the feasibility, acceptability, and preliminary effects of a cognitive–behavioral intervention (Creating Opportunities for Patient Empowerment [COPE]) on depression, anxiety, and quality of life (QOL) in a sample of adolescent refugees (13-17 years) living in Lebanon. A preexperimental study design was used. COPE 7-Session was delivered to 31 adolescent Syrian refugees. Participants were assessed for depression (Personal Health Questionnaire–9), anxiety (General Anxiety Disorders Scale), and QOL (Pediatric Quality of Life Inventory). Feasibility and acceptability findings indicated that the COPE program was a positive experience for teens. Significant decreases in depression and anxiety, and increases in QOL were also reported. COPE is an effective cognitive–behavioral intervention that can be delivered in an Arabic/Middle-Eastern setting for teen refugees to improve mental health and QOL.

scholarly journals Cystic Fibrosis: Improving quality of life

2021 ◽  
Vol 8 (2) ◽  
pp. 91-96
Author(s):  
Sunil Chaudhry
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Sweat Glands ◽  
Common Mutation ◽  
Close Monitoring ◽  
Transmembrane Conductance Regulator ◽  
Transmembrane Conductance ◽  
Estimate Frequency ◽  
Cftr Protein

Cystic Fibrosis (CF) or Mucoviscidosis is an inherited condition. In cystic fibrosis transmembrane conductance regulator (CFTR) protein does not functions properly i.e regulation of fluids and salts outside the cells. Cystic fibrosis affects exocrine glands eg., the mucus-secreting and sweat glands in the respiratory and digestive systems. The frequency of common mutation F508del (deletion of phenylalanine residue at position 508) in children is between 19% and 34%. The estimate frequency of CF as 1:10,000 to 1:40,000 in children. There is no cure for cystic fibrosis, but treatment can reduce symptoms and complications to improve quality of life. Close monitoring and early, aggressive intervention is recommended to slow the progression of CF, which can lead to possible longer life.

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