scholarly journals Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1389
Author(s):  
Hoda A. Ahmed ◽  
Ghada Y. El-Kamah ◽  
Eman Rabie ◽  
Mostafa I. Mostafa ◽  
Maha R. Abouzaid ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Phenotypic Variability ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Sweat Glands ◽  
Congenital Defects ◽  
Targeted Next Generation Sequencing ◽  
Genes Encoding ◽  
Emerging Treatments ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands. Molecular pathogenesis of ED involves mutations of genes encoding key proteins of major developmental pathways, including ectodysplasin (EDA) and wingless-type (WNT) pathways. The most common ED phenotype is hypohidrotic/anhidrotic ectodermal dysplasia (HED) featuring hypotrichosis, hypohidrosis/anhidrosis, and hypodontia. Molecular diagnosis is fundamental for disease management and emerging treatments. We used targeted next generation sequencing to study EDA, EDAR, EDARADD, and WNT10A genes in 45 Egyptian ED patients with or without hypohidrosis. We present genotype and phenotype data of 28 molecularly-characterized patients demonstrating genetic heterogeneity, variable expressivity, and intrafamilial phenotypic variability. Thirteen mutations were reported, including four novel EDA mutations, two novel EDARADD, and one novel EDAR mutations. Identified mutations congregated in exons encoding key functional domains. EDA is the most common gene contributing to 85% of the identified Egyptian ED genetic spectrum, followed by EDARADD (10%) and EDAR (5%). Our cohort represents the first and largest cohort from North Africa where more than 60% of ED patients were identified emphasizing the need for exome sequencing to explore unidentified cases.

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 Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine

2021 ◽  
Vol 10 (24) ◽  
pp. 5821
Author(s):  
Lăcrămioara Ionela Butnariu ◽  
Elena Țarcă ◽  
Elena Cojocaru ◽  
Cristina Rusu ◽  
Ștefana Maria Moisă ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Association Studies ◽  
Phenotypic Variability ◽  
Genetic Disorders ◽  
Gene Mutations ◽  
Modern Medicine ◽  
Modifier Genes ◽  
Cftr Gene ◽  
Future Research ◽  
Genome Wide Association Studies

Cystic fibrosis (CF) is a monogenic autosomal recessive disease caused by cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. CF is characterized by a high phenotypic variability present even in patients with the same genotype. This is due to the intervention of modifier genes that interact with both the CFTR gene and environmental factors. The purpose of this review is to highlight the role of non-CFTR genetic factors (modifier genes) that contribute to phenotypic variability in CF. We analyzed literature data starting with candidate gene studies and continuing with extensive studies, such as genome-wide association studies (GWAS) and whole exome sequencing (WES). The results of both types of studies revealed that the number of modifier genes in CF patients is impressive. Their identification offers a new perspective on the pathophysiological mechanisms of the disease, paving the way for the understanding of other genetic disorders. In conclusion, in the future, genetic analysis, such as GWAS and WES, should be performed routinely. A challenge for future research is to integrate their results in the process of developing new classes of drugs, with a goal to improve the prognosis, increase life expectancy, and enhance quality of life among CF patients.

scholarly journals Prosthetic dental management of a patient with anhidrotic ectodermal dysplasia. A Case Report.

2021 ◽  
Vol 10 (4) ◽  
pp. 1-6
Author(s):  
Daniel Hernández-González ◽  
◽  
Jennifer Orozco-Páez ◽  
Keyword(s):  
Case Report ◽  
Multidisciplinary Approach ◽  
Ectodermal Dysplasia ◽  
Genetic Disorders ◽  
Stomatognathic System ◽  
Lower Jaw ◽  
Correct Analysis ◽  
Dental Management ◽  
Cad Cam ◽  
Anhidrotic Ectodermal Dysplasia

Introduction: Ectodermal dysplasia (ED) comprises a broad group of genetic disorders characterized by alterations of the structures derived from the ectoderm, including those of the stomatognathic system. Case Report: The present article aims to report the prosthetic management of a patient with anhidrotic ectodermal dysplasia. A male patient diagnosed with ED who attended the dental consultation displaying oligodontia; underdeveloped alveolar ridges were observed. Results: The established treatment consisted of the adaptation of implant-supported fixed full-arch prosthesis designed through CAD-CAM technology for the lower jaw and of a removable partial prosthesis with muco-dental support for the upper jaw. The dental approach of patients with ED is based on a correct analysis of the facial characteristics and stomatological conditions of each subject. Conclusion: A multidisciplinary approach is mandatory due to the biological and functional complexity in biomechanical terms of these individuals.

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 Paradoxical hyperhidrosis in a patient with ectodermal dysplasia and immunodeficiency

2016 ◽  
Vol 3 (2) ◽  
pp. 61-66
Author(s):  
Amiirah Aujnarain ◽  
Catherine Chung ◽  
Julia Upton
Keyword(s):  
Clinical Features ◽  
Ectodermal Dysplasia ◽  
Clinical Phenotype ◽  
Sweat Glands ◽  
Dental Abnormalities ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Sparse Hair ◽  
Immune Defects ◽  
Eccrine Sweat

Anhidrotic Ectodermal Dysplasia with Immunodeficiency (EDA-ID) is a pleotropic disorder characterized by dental abnormalities, eccrine sweat dysgenesis, specific facies, fine sparse hair, pale wrinkled skin, and variable immune defects. The condition is caused by hypomorphic mutations (NF) κB Essential modifier protein (NEMO) gene. The clinical phenotype between patients is heterogenous and variable. Here we report a patient with a known NEMO mutation presenting with clinical features consistent with EDA-ID, except for paradoxical hyperhidrosis despite having a biopsy-proven reduced number of sweat glands. Statement of novelty: We report a patient with X-linked EDA-ID due to NEMO deficiency who presented with marked diaphoresis despite biopsy-proven reduced sweat glands and ectodermal dysplasia.

scholarly journals Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families

2019 ◽  
Vol 157 (4) ◽  
pp. 189-196 ◽  
Author(s):  
Yeliz Güven ◽  
Elodie Bal ◽  
Umut Altunoglu ◽  
Esra Yücel ◽  
Smail Hadj-Rabia ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Mutation Detection ◽  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Pathogenic Variants ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Clinical Profiles ◽  
Autosomal Recessive Pattern ◽  
Genotype Correlation

Hypohidrotic or anhidrotic ectodermal dysplasia (HED/EDA) is characterized by impaired development of the hair, teeth, or sweat glands. HED/EDA is inherited in an X-linked, autosomal dominant, or autosomal recessive pattern and caused by the pathogenic variants in 4 genes: EDA, EDAR, EDARADD, and WNT10A. The aim of the present study was to perform molecular screening of these 4 genes in a cohort of Turkish individuals diagnosed with HED/EDA. We screened for pathogenic variants of WNT10A, EDA, EDAR, and EDARADD through Sanger sequencing. We further assessed the clinical profiles of the affected individuals in order to establish phenotype-genotype correlation. In 17 (63%) out of 27 families, 17 pathogenic variants, 8 being novel, were detected in the 4 well-known ectodermal dysplasia genes. EDAR and EDA variants were identified in 6 families each, WNT10A variants in 4, and an EDARADD variant in 1, accounting for 35.3, 35.3, 23.5, and 5.9% of mutation-positive families, respectively. The low mutation detection rate of the cohort and the number of the EDAR pathogenic variants being as high as the EDA ones were the most noteworthy findings which could be attributed to the high consanguinity rate.

scholarly journals Ectodermal Dysplasia with Anodontia: A Report of Two Cases

2010 ◽  
Vol 04 (02) ◽  
pp. 215-222 ◽  
Author(s):  
Mehmet Bani ◽  
Ali Melih Tezkirecioglu ◽  
Nese Akal ◽  
Tamer Tuzuner
Keyword(s):  
Pediatric Patients ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Maxillofacial Surgery ◽  
Pediatric Dentistry ◽  
Sweat Glands ◽  
Nail Dystrophy ◽  
Oral Rehabilitation ◽  
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. Two case reports illustrating the prosthetic rehabilitation of 2 young boys with anhidrotic ectodermal dysplasia associated with severe anodontia are presented. Since the oral rehabilitation of these cases is often difficult; particularly in pediatric patients, treatment should be administered by a multidisciplinary team involving pediatric dentistry, orthodontics, prosthodontics and oral-maxillofacial surgery. (Eur J Dent 2010;4:215-222)

Central nervous system variations and abnormalities in anhidrotic ectodermal dysplasia (AED): neuroimaging findings

2020 ◽  
Vol 61 (10) ◽  
pp. 1377-1387
Author(s):  
Abdurrahim Dusak ◽  
Demet Hafizoglu ◽  
Sara Sebnem Kilic ◽  
Zeynep Yazıcı
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Ectodermal Dysplasia ◽  
Focal Cortical Dysplasia ◽  
Congenital Defects ◽  
Control Group ◽  
Cavum Septum Pellucidum ◽  
Healthy Control ◽  
Anhidrotic Ectodermal Dysplasia ◽  
And Gender

Background Anhidrotic ectodermal dysplasia (AED) is a rare, mostly X-linked recessive genodermatosis, characterized by congenital defects of ectodermal derivative structures as the central nervous system (CNS) is primarily ectodermal in origin. Purpose To evaluate CNS variations and abnormalities in AED. Material and Methods A retrospective analysis was made of the neurological and neuroimaging findings of 17 children (12 boys, 5 girls; median age = 8 years; age range = 2–14 years) diagnosed with AED in our pediatric clinics during 2008–2016. The pattern of CNS variation and abnormalities were evaluated by comparing of these findings with an age- and gender-matched healthy control group with no family history. Results Of the 17 AED cases identified on the basis of neuroimaging findings, 6 (35.3%) were seen to be normal. Associated CNS variation and abnormalities including cavum septum pellucidum (35.3%), callosal dysgenesis (11.8%), prominent Virchow–Robin spaces (64.7%), cortical sulcal dilation (41.1%), mega cisterna magna (35.3%), focal cortical dysplasia (11.8%), and delayed myelination (58.8%) were observed in 11 (64.7%) children with AED. Conclusion AED suggests a spectrum of CNS variation and abnormalities, presenting with neurological and neuroimaging findings, demonstrated in the embryonic surface- and neuro-ectoderm derived structures. The results of this study suggest that CNS variation and abnormalities might be associated with AED.

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