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.

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 Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Sepideh Mokhtari ◽  
Saeedeh Mokhtari ◽  
Ali Lotfi
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Classical Case ◽  
Common Type ◽  
Rare Disorder ◽  
Review Of The Literature ◽  
Sebaceous Glands ◽  
Dental Abnormalities ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome.

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.

Persistent nasal crusting due to hypohidrotic ectodermal dysplasia

1996 ◽  
Vol 110 (4) ◽  
pp. 379-382 ◽  
Author(s):  
A. H. Al-Jassim ◽  
A. C. Swift
Keyword(s):  
Respiratory Tract ◽  
Ectodermal Dysplasia ◽  
Sweat Glands ◽  
Specific Reference ◽  
Nasal Discharge ◽  
Upper Respiratory Tract ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Sparse Hair ◽  
Tract Infections ◽  
Clinical Awareness

AbstractHypohidrotic ectodermal dysplasia is an hereditary condition of the ectodermal tissues which may escape recognition because of lack of clinical awareness due to its rarity. Otorhinolaryngological features of this syndrome include chronic respiratory tract infections, persistent foul-smelling nasal discharge and crust formation, and hearing problems.The condition is usually an X-linked recessive disease affecting mainly ectodermal tissue, although nonectodermal tissue may also be affected. The notation ‘ectodermal’ is used because ectodermal tissues are always involved. The syndrome is characterized by complete or partial absence of sweat glands, sparse hair growth, absent or deformed peg teeth, sparse sebaceous glands, occasional absence of salivary and lacrimal glands, scanty mucous glands and deficient cilia.We describe two children with this disorder with specific reference to the effect on the upper respiratory tract.

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

Rapp-Hodgkin Syndrome: Clinical and Dental Findings

2009 ◽  
Vol 34 (1) ◽  
pp. 71-75 ◽  
Author(s):  
Gul Tosun ◽  
Ulku Elbay
Keyword(s):  
Cleft Palate ◽  
Ectodermal Dysplasia ◽  
Dental Treatment ◽  
Sweat Glands ◽  
Oral Manifestations ◽  
Steel Wool ◽  
Rare Form ◽  
Dental Rehabilitation ◽  
Delayed Eruption ◽  
Sparse Hair

Rapp-Hodgkin syndrome is a rare form of ectodermal dysplasia involving the hair, eyes, sweat glands, nails,teeth and palate. This syndrome is characterized by stiff, sparse hair with the appearance of steel wool,sparse eyebrows and lashes, cleft palate, absence of lacrimal punctae, epiphora, a decreased number of sweat glands, and dystrophic nails. Cleft palate, hypodontia, abnormal tooth shape, multiple caries, delayed eruption of teeth are the main oral manifestations. In this paper we describe the clinical and dental findings of this syndrome in a 7 year old girl referred to the dental clinic because of severe tooth ache. The dental treatment included root canal treatment, composite restorations, extractions and removable prostheses. This paper highlights features of Rapp-Hodgkin Syndrome and its dental rehabilitation.

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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