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 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

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 Dental Implants in Pediatric Dentistry: A Literature Review.

2020 ◽  
Vol 2 (2) ◽  
pp. 1-12
Author(s):  
Ana Paula Soares Fernandes ◽  
Márcio Antônio Battistella
Keyword(s):  
Literature Review ◽  
Growth And Development ◽  
Bone Growth ◽  
Pediatric Patients ◽  
Adult Population ◽  
Pediatric Dentistry ◽  
Oral Rehabilitation ◽  
Pediatric Dentist ◽  
Development Factor ◽  
Osseointegrated Implants

The use of osseointegrated implants has been increasingly widespread in the adult population, however in children there is a certain lack in the literature on the application of this technique. The bone growth and development factor must be well analyzed, and the pediatric dentist must be able to suggest the use of this treatment option for oral rehabilitation, when necessary. This article discusses bone growth and development of the craniofacial region, presents relevant aspects of the literature and discusses the use of this technique in pediatric patients.

Should We Consider Hypohidrotic Ectodermal Dysplasia as a Possible Risk Factor for Malignant Melanoma?

2007 ◽  
Vol 11 (5) ◽  
pp. 188-190 ◽  
Author(s):  
Stamatis Gregoriou ◽  
Dimitris Rigopoulos ◽  
Theognosia Vergou ◽  
Chrysovalantis Korfitis ◽  
George Menegakis ◽  
...  
Keyword(s):  
Malignant Melanoma ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Epidemiologic Study ◽  
Sweat Glands ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Multisystem Disorder ◽  
Pigmented Lesions ◽  
Ectodermal Dysplasias

Background: Hypohidrotic ectodermal dysplasia (HED) is a rare multisystem disorder that typically affects hair, teeth, nails, and sweat glands in combination with abnormalities of ectodermal originated tissues. Objective: To raise the issue of whether heightened awareness is required in the follow-up of pigmented lesions in patients with HED. Methods/Results: Two patients with HED are reported. The first had a history of two malignant melanomas, whereas the second presented with a novel malignant melanoma. Conclusion: Although a prospective epidemiologic study to determine the incidence of malignant melanoma in patients with HED is virtually impossible and the probable pathogenesis warrants further investigation, these two case reports, in conjunction with other recent reports associating other ectodermal dysplasias with malignant melanoma, suggest that heightened awareness might be prudent in the follow-up of pigmented lesions in patients with HED.

scholarly journals Ocular manifestations of ectodermal dysplasia

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Daphna Landau Prat ◽  
William R. Katowitz ◽  
Alanna Strong ◽  
James A. Katowitz
Keyword(s):  
Pediatric Patients ◽  
Ectodermal Dysplasia ◽  
Pediatric Population ◽  
Case Series ◽  
Sweat Glands ◽  
Retrospective Case ◽  
Ocular Manifestations ◽  
Ectodermal Dysplasias ◽  
New Finding ◽  
Lacrimal Drainage

Abstract Purpose The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands. The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED. Methods Retrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children’s Hospital of Philadelphia over a 12-year period (2009–2020). Main Outcome Measures were ocular and ocular adnexal abnormalities. Results Thirty subjects were included: 20 males (67%), mean age of 4.5 years (range 0.3–18). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with TP63 or EDA1 genes variants. Conclusion Ectodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.

Pure Ectodermal Dysplasia: Retrospective Study of 16 Cases and Literature Review

2001 ◽  
Vol 38 (5) ◽  
pp. 504-518 ◽  
Author(s):  
B. Ruhin ◽  
V. Martinot ◽  
P. Lafforgue ◽  
B. Catteau ◽  
S. Manouvrier-Hanu ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Maxillofacial Surgery ◽  
University Hospital ◽  
Oral And Maxillofacial Surgery ◽  
Nail Dystrophy ◽  
Ectodermal Dysplasias ◽  
Surgery Department ◽  
Mandibular Protrusion ◽  
Implant Treatment ◽  
Plaster Casts

Objective: To review the possible craniomaxillofacial deformative consequences associated with ectodermal dysplasias and embryonic malformations, which include dental ageneses. Setting: Oral and Maxillofacial Surgery Department, University Hospital, Lille, France. Patients: Sixteen patients (seven boys and nine girls, aged 4 to 34 years) with pure ectodermal dysplasia (no ectodermal dysplasia syndromes). Interventions: All patients had a clinical examination. Seven (two boys and five girls, aged 4 to 25 years) had undergone plaster casts and radiographic and Delaire's cephalometric studies before being treated. Main Outcome Measures: All patients had tooth ageneses (from hypodontia to anodontia), associated with cutaneous dyshidrosis and hair and nail dystrophy. Most of them had a short face, with an unusual facial concavity, a maxillary retrusion, and a relative mandibular protrusion. Management Results and Discussion: Depending on their ages and their orthopedic abnormalities, patients underwent either dental or prosthodontic, orthodontic, orthopedic, orthognathic, or implant treatment. So as not to interfere with the growth pattern, we preferred to reserve implant and orthognathic surgery for full-grown cases. Conclusions: Oral and maxillofacial surgeons must undertake a comprehensive approach to these patients to improve their dental, masticatory, growing, and orthognathic conditions.

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.

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