Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases

2002 ◽  
Vol 26 (1) ◽  
pp. 5-12 ◽  
Author(s):  
B. Kargül ◽  
T. Alcan ◽  
U. Kabalay ◽  
M. Atasu
Keyword(s):  
Ectodermal Dysplasia ◽  
Oral Surgery ◽  
Clinical Manifestations ◽  
Pediatric Dentistry ◽  
Permanent Teeth ◽  
Maxillofacial Radiology ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Clinical Genetic ◽  
Osseointegrated Implants ◽  
Removable Prosthesis

Patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy. This disorder is inherited as an X- linked trait. This report presents three cases with HED in which the clinical evaluation (intraoral and radiological), genetic findings and SEM examination of hair. Boys 6 to 14 year old and a 11 year old girl were referred to the Marmara University, Faculty of Dentistry, complaining of oligodontia in the maxillary and mandibular arches and delay in eruption of other teeth. Peg-shaped teeth have been observed. The dermatoglyphs of the patients were striking. SEM exmimation of hair demostrated a distinctly abnormal longitudinal groving along the entire length of each hair and a desquamation of the surface cuticles. The treatment was planned in a multidisciplinary odontological group involving pediatric dentistry, orthodontics, prosthodontics and oral surgery and maxillofacial radiology of future dental habilitation. A specially designed overdenture, a removable prosthesis and osseointegrated implants were constructed. Periodic recall visits were advised, to monitor the dentures and implants during periods of growth and development, and eruption of the permanent teeth.

scholarly journals Hypohidrotic Ectodermal Dysplasia: A Clinical Case with a Longitudinal Approach

2014 ◽  
Vol 15 (6) ◽  
pp. 788-791 ◽  
Author(s):  
Fabian Calixto Fraiz ◽  
Renato Cordeiro Gugisch ◽  
Bianca Lopes Cavalcante-Leão ◽  
Liliane Moreira Macedo
Keyword(s):  
Clinical Case ◽  
Ectodermal Dysplasia ◽  
Negative Impact ◽  
Clinical Manifestations ◽  
Permanent Teeth ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Oral Rehabilitation ◽  
Anterior Teeth ◽  
Longitudinal Approach

ABSTRACT Aim This paper describes a clinical case of a male with hypohidrotic ectodermal dysplasia submitted to rehabilitation and occlusal dental interventions with follow-up from 3 to 14 years of age. Background Due to the severe effects on function and esthetics, the clinical manifestations of ectodermal dysplasia exert a negative impact on quality of life. However, oral rehabilitation in childhood poses a challenge due to growth and development. Case description A male with hypohidrotic ectodermal dysplasia began dental intervention at the age of 3 years. The clinical and radiographic exams revealed the absence of several primary and permanent teeth and abnormal shape of the primary maxillary incisors. The facial characteristics were compatible with hypohidrotic ectodermal dysplasia, such as a prominent brow, everted lips, flattened bridge of the nose and small vertical facial height. The treatment proposed involved rehabilitation through successive temporary partial dentures, functional orthopedics of the jaws, esthetic reconstruction of the anterior teeth, timely occlusal intervention and preventive actions for the control of dental caries and plaque. Conclusion The present case demonstrates that early care plays a fundamental role in minimizing the biopsychosocial consequences of hypohidrotic ectodermal dysplasia and preparing the patient for future oral rehabilitation. Clinical significance Although, the literature offers a number of papers describing dental treatment for ectodermal dysplasia, few cases include long-term follow-up and the use of a functional orthopedic appliance in combination with removable dentures in such patients. How to cite this article Fraiz FC, Gugisch RC, Cavalcante- Leão BL, Macedo LM. Hypohidrotic Ectodermal Dysplasia: A Clinical Case with a Longitudinal Approach. J Contemp Dent Pract 2014;15(6):788-791.

scholarly journals Fraser Syndrome-Oral Manifestations and a Dental Care Protocol

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Talita Lopes de Oliveira ◽  
Giselle Rodrigues de Sant’Anna
Keyword(s):  
Lung Disease ◽  
Chronic Lung Disease ◽  
Bacterial Flora ◽  
Clinical Manifestations ◽  
Pediatric Dentistry ◽  
Chemotherapeutic Agents ◽  
Permanent Teeth ◽  
Dental Calculus ◽  
Fraser Syndrome ◽  
Care Protocol

Fraser syndrome is a rare genetic malformation with an autosomal recessive pattern of inheritance and an incidence of consanguinity ranging from 15% to 25%. A 5-year-old male patient who is a carrier of Fraser syndrome initiated treatment in the pediatric dentistry sector. The patient was fed parenterally since birth, experienced recurring bouts of chronic lung disease, and was referred to the pediatric dentistry sector by the medical team. Radiographic examination revealed the presence of all permanent teeth. Supragingival dental calculus, halitosis, and gingival inflammation were also observed. Dental calculus was removed by manual scraping, and chemotherapeutic agents were used, chlorhexidine 0,12%, chlorhexidine gel 2%, and PVP-I, to control the bacterial flora. The patient is still being monitored after an 8-year follow-up period, the complications associated with periodontal disease decreased, and since the initiation of treatment, the patient has not needed to be hospitalized because of chronic lung disease. This study reports the case of a patient diagnosed with Fraser syndrome and describes the clinical manifestations (general and oral).

scholarly journals Ectodermal dysplasia - Maxillary and mandibular alveolar reconstruction with dental rehabilitation: A case report and review of the literature

2010 ◽  
Vol 43 (01) ◽  
pp. 092-096
Author(s):  
Sanjeev N. Deshpande ◽  
Vikas Kumar
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Inherited Disorders ◽  
Oral Rehabilitation ◽  
Osseointegrated Implants ◽  
Dental Rehabilitation ◽  
Free Fibula ◽  
Rare Group

ABSTRACTEctodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth. Oral rehabilitation is the major surgical challenge in such patients. It frequently requires alveolar reconstruction followed by dental implants. We report a case of hypohidrotic ectodermal dysplasia, which was managed with reconstruction of both the upper and the lower alveolus using free fibula flaps with dental rehabilitation using osseointegrated implants.

scholarly journals Prosthetic Rehabilitation of A 3 Year Old Child With Ectodermal Dysplasia – A Case Report

2015 ◽  
Vol 03 (03) ◽  
pp. 174-178
Author(s):  
Aditi Bector ◽  
Avninder Kaur ◽  
Shivesh Acharya ◽  
Sumeet Rajpal ◽  
Surabhi Awasthi
Keyword(s):  
Multidisciplinary Approach ◽  
Ectodermal Dysplasia ◽  
Case Reports ◽  
Abnormal Development ◽  
Prosthetic Rehabilitation ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Partial Denture ◽  
Self Image ◽  
Removable Prosthesis ◽  
Hereditary Disorders

AbstractEctodermal dysplasia are rare hereditary disorders characterized by abnormal development of certain tissues and structures of ectodermal origin. Children affected need multidisciplinary approach and a removable prosthesis is recommended in initial years of life to prevent bone resorption, improve esthetics, mastication and speech apart from boosting self image. Implants are recommended only once the growth is complete. This case reports hypohidrotic ectodermal dysplasia with partial anodontia in a 3 year old child, rehabilitated with partial denture in maxillary and complete denture in mandibular arch.

A rare cause of fever of unknown origin: hypohidrotic ectodermal dysplasia with a splice site mutation

2018 ◽  
Vol 70 (5) ◽  
Author(s):  
Melahat M. Oguz ◽  
Meltem Akcaboy ◽  
Asuman Gurkan ◽  
Esma Altinel Acoglu ◽  
Pelin Zorlu ◽  
...  
Keyword(s):  
Splice Site ◽  
Fever Of Unknown Origin ◽  
Ectodermal Dysplasia ◽  
Splice Site Mutation ◽  
Unknown Origin ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Site Mutation

scholarly journals One Mutation of the ED1 Gene in a Chinese Han Family with X-Linked Hypohidrotic Ectodermal Dysplasia

2014 ◽  
Vol 26 (1) ◽  
pp. 111 ◽  
Author(s):  
Jing Wang ◽  
Wei-Wei Ha ◽  
Wen Wang ◽  
Hua-Yang Tang ◽  
Xian-Fa Tang ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Chinese Han

scholarly journals First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant?

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Mario Tumminello ◽  
Antonella Gangemi ◽  
Federico Matina ◽  
Melania Guardino ◽  
Bianca Lea Giuffrè ◽  
...  
Keyword(s):  
Ectodermal Dysplasia ◽  
Genetic Disorder ◽  
Missense Variant ◽  
Pathogenic Variant ◽  
Hypohidrotic Ectodermal Dysplasia ◽  
Variant Of Uncertain Significance ◽  
Uncertain Significance ◽  
Clinical Potential ◽  
Genomic Variant ◽  
Eda Gene

Abstract Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease. XLHED is characterized by hypotrichosis, hypohydrosis and hypodontia. The cardinal features of classic HED become obvious during childhood. Identification of a hemizygous EDA pathogenic variant in an affected male confirms the diagnosis. Case presentation We report on a male newborn with the main clinical characteristics of the X-linked HED including hypotrichosis, hypodontia and hypohidrosis. Gene panel sequencing identified a new hemizygous missense variant of uncertain significance (VUS) c.1142G > C (p.Gly381Ala) in the EDA gene, located on the X chromosome and inherited from the healthy mother. Conclusion Despite the potential functional impact of VUS remains uncharacterized, our goal is to evaluate the clinical potential consequences of missense VUS on EDA gene. Even if the proband’s phenotype is characteristic for classic HED, further reports of patients with same clinical phenotype and the same genomic variant are needed to consider this novel VUS as responsible for the development of HED.

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