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

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.

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 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.

Correcting facial dysmorphism in a patient with anhidrotic ectodermal dysplasia: A clinical report

1998 ◽  
Vol 80 (5) ◽  
pp. 524-526 ◽  
Author(s):  
Jerzy Lakomski ◽  
Krzysztof Kobielak ◽  
Agnieszka Kobielak ◽  
Wiéslaw Henryk Trzeciak
Keyword(s):  
Ectodermal Dysplasia ◽  
Facial Dysmorphism ◽  
Clinical Report ◽  
Anhidrotic Ectodermal Dysplasia

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.

scholarly journals ORAL REHABILITATION BY TWIN STAGE TECHNIQUE IN A CASE OF AMELOGENESIS IMPERFECTA

2020 ◽  
Author(s):  
NIRMALYA CHATTERJEE ◽  
AMRITA GHOSH
Keyword(s):  
Tooth Enamel ◽  
Treatment Plan ◽  
Psychological Impact ◽  
Amelogenesis Imperfecta ◽  
Clinical Report ◽  
Oral Rehabilitation ◽  
Stomatognathic System ◽  
Utmost Care ◽  
Systemic Manifestations ◽  
Occlusal Interferences

Amelogenesis Imperfecta (AI) is a diverse collection of inherited diseases that exhibit quantitative or qualitative tooth enamel defects in the absence of systemic manifestations. It is necessary to diagnose the case and provide durable functional and aesthetic management of these patients, as the unaesthetic appearance has a definite negative psychological impact. This clinical report describes the use of the Hobo twin-stage procedure for rehabilitation of a patient with amelogenesis imperfecta and reduced vertical dimension of occlusion. The treatment plan was executed keeping in mind not only the severely damaged dentition but also treating the whole stomatognathic system. Utmost care was taken to achieve harmonious occlusion with no possible occlusal interferences which would otherwise initiate the habit of bruxism and thereby cause wear of the prosthesis. KEY WORDS : Amelogenesis Imperfecta , Hobo twin-stage procedure , harmonious occlusion .

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.

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