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.

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 What is the Connection between Normal Body Temperature and Chicken Likeness?

2019 ◽  
Vol 4 (2) ◽  
Keyword(s):  
Body Temperature ◽  
The Body ◽  
Normal Body Temperature ◽  
Male And Female ◽  
Normal Body ◽  
High Body ◽  
Strong Relation

The objective of current study was to co-relate normal body temperature with chicken likeness. Body temperature is the normal temperature of the body. Usual body temperature may change in different situations such as by age, person, time of the day and activity. Thermometer is the instrument used to find out the temperature of the body. Total of 150 students took part in the recent study and they were the students of Bahauddin Zakariya University, Multan Pakistan. We arranged the instrument and then measured their body temperature. At the end we can concluded that there is a strong relation between these two variables. The male and female individuals with high body temperature are chicken lovers.

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 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 The Composition of Human Perspiration (Samuel Hyde Memorial Lecture)

1934 ◽  
Vol 27 (7) ◽  
pp. 839-848 ◽  
Author(s):  
B. A. McSwiney
Keyword(s):  
Nervous System ◽  
Lactic Acid ◽  
Body Temperature ◽  
Normal Subjects ◽  
The Body ◽  
Sweat Glands ◽  
Memorial Lecture ◽  
Acetyl Choline ◽  
Warm Blood ◽  
Stimulation Of

Water given off by the skin is classified as insensible and sensible perspiration. Under normal conditions about 600 to 700 c.c. is evaporated from the skin in twentyfour hours. The chief physiological significance of the perspiration is to assist in regulating the body temperature. The constituents of perspiration are very variable. The average values calculated from the examination of fourteen male specimens and ten female specimens are given below:— [Formula: see text] Examination of the figures obtained for the sweat shed by rheumatic subjects shows no marked divergence from those recorded for normal subjects. Lactic acid is stated to be present in relatively large amounts in sweat, but these results have not been confirmed. Moss (1923) demonstrated the importance of the loss of chloride which occurred during continued sweating. He showed that symptoms of water-poisoning occurred when men engaged in hard work in hot places drank water freely. Hancock, Whitehouse and Haldane (1930) point out that the percentage of chloride in sweat increases markedly with duration of sweating, and suggest that water poisoning is due to an alteration in the diffusion pressure of water in the body. The secretion is under control of the nervous system, and is normally excited through stimulation of the centres by warm blood. The sweat-glands are innervated by fibres of the sympathetic system. Adrenaline has, however, no action on the glands, while pilocarpine excites and atropine paralyses. Recent investigations suggest that acetyl-choline is liberated at the nerve-endings.

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)

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.

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