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At least 631 records · Page 35Linked to original sources
PubMed2002

Prospective clinical trial of dental implants in persons with ectodermal dysplasia.

STATEMENT OF PROBLEMS: Ectodermal dysplasia is a hereditary condition in which hypodontia is the second most frequently occurring sign. Hypodontia is associated with lack of development of the alveolar ridge and results in less volume of bone for support of conventional prostheses. Minimal development of the alveolar ridge can affect the bone volume available for the placement of dental implants. PURPOSE: This clinical trial evaluated the survival of implants placed in individuals with a form of ectodermal dysplasia and severe hypodontia. MATERIAL AND METHODS: Two hundred sixty-four titanium endosteal dental implants were placed in 51 subjects: 37 males and 14 females between the ages of 8 and 68 (mean age 20.5 years, median age 16.5 years). Two hundred forty-three implants were placed in the anterior mandible, and 21 were placed in the anterior maxilla with a 2-stage surgical protocol. Either fixed-detachable dentures or bar-clip overdentures were provided. Subjects were followed up for 0 to 78 months after second-stage surgery. Kaplan-Meier survival rates and curves were produced to describe the survival of the implants for the different age groups and implant locations. Repeated-measures Cox regression models were used to evaluate the hazard ratios for age and location, with alpha=.05 as the criteria for significance. RESULTS: Of the 243 implants placed in the anterior mandible, 221 (91%) survived. Of the 21 implants placed in the anterior maxilla, 16 (76%) survived. Fourteen of the 51 (27%) subjects had a failed implant. All but 2 failures occurred before or at second-stage surgery. Implant-supported prostheses were provided for all patients. CONCLUSION: Within the limitations of this study, the results support the continued use of endosteal dental implants in this patient population with appropriate precautions in the maxilla.

Adolescent↗
PubMed2002

Hereditary ectodermal dysplasia: a case report.

Hereditary ectodermal dysplasia is an inherited disorder involving skin, hair, nails and teeth. Two main clinical forms have been described--hypohidrotic type and hidrotic type. A case of ectodermal dysplasia with absence of hypohidrosis and defective nails has been reported. The importance of early prosthetic management has been discussed.

Anodontia↗
PubMed2003

[Ectodermal dysplasias].

The ectodermal dysplasias form a heterogeneous group of rare and complex genetic diseases with different ectodermal derivates abnormalities. The aim of this paper is to present briefly the anhidrotic form or Christ-Siemens-Touraines's syndrome and the hidrotic form or Clouston's syndrome.

Ectodermal Dysplasia↗
PubMed2003

A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia.

The structure of the EDA1 gene was investigated in a patient with anhidrotic ectodermal dysplasia. Sequence analysis revealed a novel A1270G transition in exon 9 of the EDA1 gene in the patient and his uncle, whereas the patient's mother and grandmother were heterozygotes. This mutation resulted in Tyr343Cys substitution in the extracellular domain of the EDA1 gene product - ectodysplasin-A. The additional Cys343 was located between Cys332 and Cys346 and formed with Cys352 a cluster of four closely situated residues that could potentially form disulfide bonds. This mutation might affect the tertiary structure of the receptor-binding domain of ectodysplasin-A and precipitate the clinical symptoms of anhidrotic ectodermal dysplasia.

Adenine↗
PubMed2003

Mutation analysis of X-linked hypohidrotic ectodermal dysplasia in a Taiwanese family.

X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is the most common form among the ectodermal dysplasias, a rare group of hereditary diseases characterized by abnormal development of eccrine sweat glands, hair, and teeth. Heterozygous carriers of XLHED often manifest minor or moderate degrees of hypotrichosis, hypodontia, and hypohidrosis. ED1, the gene involved in XLHED, encodes ectodysplasin A, a new member of the tumor necrosis factor family. The majority of mutations in XLHED are missense mutations, but one-fifth are insertion/deletions. In this report, we describe the mutation analysis of a Taiwanese pedigree with XLHED. A 35-bp deletion in exon 5 of the ED1 gene was found in the 3 affected males and in 5 female carriers. Mutation analysis in families with XLHED allows for genetic counseling, prenatal diagnosis, and confirmation of carrier status.

Child↗
PubMed2003

[Mutation detection in ED1 gene in hypohidrotic ectodermal dysplasia (HED) families].

OBJECTIVE: To detect ED1 gene mutation in three hypohidrotic ectodermal dysplasia (HED) nuclear families. METHODS: Peripheral blood samples were obtained from three different families of hypohidrotic ectodermal dysplasia. Genomic DNA was extracted. Polymerase chain reaction, direct sequencing and restriction enzyme reaction were performed to identify the mutations. RESULTS: Different missense mutation in ED1 gene were found in each family: C412G, A1201G and C1375T. Two of the mutations had not been previously reported. CONCLUSION: Mutations in the ED1 gene are responsible for the phenotypes of HED of the patients in the family.

Ectodermal Dysplasia 1, Anhidrotic↗
PubMedDate not supplied

[Ectodermal dysplasias--a general view].

Ectodermal dysplasias comprise a group of about 150 diseases, in general of a genetic nature. The most common form--Christ, Siemens, Touraine's Syndrome--is characterized by high intermittent fever in infancy and, when the patient is not properly cared for, the hyperthermia may cause death. In Brazil, there are at least 400 men severely affected by this syndrome (such a number is not higher because approximately 50% of the patients die early) and 1,000 women. In women, however, the syndrome occurs in a mild form, and many go unnoticed. Disinformation renders difficult the diagnosis and treatment of patients. This was the reason that led us to create, in 1982, the Center for the Study of Ectodermal Dysplasias, the only specialized institution of such diseases in the world.

Child↗
PubMed2003

[Prosthetic rehabilitation in ectodermal dysplasia. Case report].

The oral and dental rehabilitation of patients with ectodermal dysplasia is a demanding and complex process. Close cooperation of medical and dental specialists is is mandatory. The individual age related situation and aspects of social integration have to be considered, when doing treatment planning for these patients. A major problem is the highly reduced number of teeth, the impaired development of the jaws and the dysplastic alteration of the teeth. The prosthodontic rehabilitation of a young girl with the congenital disease of ectodermal dysplasia is presented and discussed.

Adult↗
PubMed1992

[Congenital anhidrotic ectodermal dysplasia in a female infant].

Fever of unknown origin, unability to sweat, hypotrichosis, absent eyebrows and thick everted lips were symptoms in a 3 month old female infant and raised the suspicion of anhidrotic ectodermal dysplasia. After several days of high fever and enteritis our patient presented with convulsions which could hardly be interrupted for a couple of days. Two months later brain scanning revealed serious brain damage. Finally the diagnosis of anhidrotic ectodermal dysplasia was confirmed by the unability to sweat by means of the quantitative pilocarpin iontophoresis test. Skin biopsy showed absence of the eccrine glands.

Biopsy↗
PubMed2004

[A case of anhidrotic ectodermal dysplasia diagnosed during investigation of asthmatic attack].

A 24-year old man was hospitalized because of a severe asthmatic attack in August 2003. The asthma attack was well controlled by mechanical ventilation, intravenous hydrocortisone and inhaled beta2-agonist. Physical examination revealed sparse hair, reduced sweating and hypodontia. We also confirmed the absence of sweat glands in a biopsied skin specimen. The diagnosis based on these findings was anhidrotic ectodermal dysplasia A mutation in the EDA (ectodysplasin-A) gene which led to an X-linked anhidrotic ectodermal dysplasia was found, and the same genetic mutation was detected in the patient's mother.

Adult↗
PubMed2004

[Anhydrotic ectodermal dysplasia as cause of recurrent hyperthermia in a 5 month old infant].

The X-linked anhydrotic ectodermal dysplasia is a rare disease in which defects in development of ectodermal derivatives are observed. This syndrome is clinically characterized by total or partial anodontia, characteristic physionomy and absent or reduced sweating. Recurrent fever was a clue to the disease diagnosis in 5 month old infant. The diagnosis was confirmed by the mutation of EDA exon 9.

Anodontia↗
PubMedDate not supplied

Anhidrotic ectodermal dysplasia with spontaneous corneal perforation and keratoconus.

A patient with anhidrotic ectodermal dysplasia and severe dry eyes was admitted with spontaneous corneal perforation in his right eye. The corneal perforation was sealed with cyanoacrylate glue and bandage contact lens placement. Three weeks later, the patient underwent penetrating keratoplasty. On follow-up examination, he had corneal graft abscess that was treated successfully with topical antibiotics and corneal erosion that was treated with a bandage contact lens. Corneal topography performed as a routine examination showed inferior corneal steepening typical of keratoconus in the left eye. This accidental discovery of keratoconus in the patient's left eye may suggest a possible association between anhidrotic ectodermal dysplasia and keratoconus.

Corneal Diseases↗
PubMed2005

Prosthetic rehabilitation of a child affected from anhydrotic ectodermal dysplasia: a case report.

The aim of this clinical report is to describe the management of a young patient, affected by ectodermal dysplasia, during a nine-year period. Dental treatment can vary depending on the severity of the disease (tooth size, morphology, and amount of available alveolar bone). New technologies, such as adhesive dentistry, and new materials, such as composite resin, represent current options in the management of the dental rehabilitation of patients affected by ectodermal dysplasia. Removable partial dentures were used to replace congenitally missing teeth, and composite resin materials were used to restore conical-shaped maxillary teeth to achieve a favorable esthetic result. This option minimized the sacrifice of healthy dental tissue. Prosthodontic and restorative treatment was provided for the psychological and social comfort of the young patient.

Alveolar Process↗
PubMedDate not supplied

Special children, special needs: the ectodermal dysplasias.

Ectodermal dysplasias are a group of genetic disorders that arise from abnormalities of the ectoderm. Children with the disorder exhibit a wide range of clinical features that frequently affect the skin, teeth, hair, and sweat glands. With early detection and careful management, these children can lead normal, productive lives.

Child↗
PubMed1991

Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia.

Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed.

Abnormalities, Multiple↗
PubMed1990

Relation of ectodermal dysplasia and hypodontia.

Ectodermal dysplasia and hypodontia were diagnosed in three families who referred to Gazi University Pedodontic Department in 1989. From the view point of dentistry, it is intended to point out the genetic transitive character of ectodermal dysplasia and its possible relation with hypodontia. Also; some approaches to satisfy the patients in social and psychological aspects besides replacing the functional and cosmetic demands were carried out.

Adolescent↗
PubMed1990

Sweating in ectodermal dysplasia syndromes. A review.

Ectodermal dysplasia syndromes are currently classified based on constellations of clinical features, a major one of which is the presence or absence of normal sweating. The evaluation of sweating in these disorders has not been performed in a standardized manner, as is shown here in this literature review of a sampling of ectodermal dysplasia syndromes. Accurate evaluation of sweating is important not only in enabling more effective diagnosis and classification of patients with these syndromes, but also in aiding genetic counseling by potential detection of carrier states. A review of the variety of sweat tests currently in use is presented.

Ectodermal Dysplasia↗
PubMed1990

[Ectodermal dysplasia with alopecia, a higher rate of chromosome breaks and normal dentition].

The authors present in two case-histories of unrelated female patients the characteristics of the syndrome of ectodermal dysplasia with alopecia and absence of hair and concurrent immunodeficiency and a higher number of chromosomal breaks. In the probands some other important symptoms of ectodermal dysplasias were lacking, such as disorders of dentition and absence of sweat glands. In this affection, hitherto not mentioned in our literature in conjunction with an increased number of chromosomal breaks, the author draws attention to genetic and prenatal genetic associations. He assumes an autosomal recessive heredity of this nosological unit.

Adult↗