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At least 91 records · Page 5Linked 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↗
PubMed1997

Ectodermal dysplasia: a review and case report.

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, and, consequently, generalized spacing. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of the deficiency of sweat glands. The present review focuses on the clinical manifestations, classifications, and diagnosis of ectodermal dysplasia. A 6-year-old girl, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems and a severe gag reflex. The treatment to improve her appearance and oral function included a removable prosthesis, acid-etch-retained indirect resin composite veneers, and a fixed partial denture.

Anodontia↗
PubMed2006

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type.

BACKGROUND: Ectodermal dysplasias are developmental disorders affecting tissues of ectodermal origin. To date, four different types of ectodermal dysplasia involving only hair and nails have been described. In an effort to understand the molecular bases of this form of ectodermal dysplasia, large Pakistani consanguineous kindred with multiple affected individuals has been ascertained from a remote region in Pakistan. OBJECTIVE: To identify the gene underlying the phenotype. METHODS: Microsatellite markers were genotyped in candidate regions and two point and multipoint parametric linkage analysis carried out. RESULTS: The disease locus was mapped to a 16.6 centimorgan region on chromosome 12q12-q14.1 (Zmax = 8.2), which harbours six type II hair keratin genes. DNA sequence analysis revealed a homozygous missense mutation in the hair matrix and cuticle keratin KRTHB5, leading to histidine substitution of a conserved arginine residue (R78H) located in the head domain. CONCLUSIONS: This report provides the first direct evidence relating to the molecular pathogenesis of pure hair-nail ectodermal dysplasias.

Arginine↗
PubMed2000

Structural hair shaft abnormalities in hypomelanosis of ito and other ectodermal dysplasias.

Hair samples from patients with different ectodermal dysplasias; hypohidrotic ectodermal dysplasia, pachyonychia congenita, tricho-dento-osseous syndrome, tricho-rhino-phalangeal syndrome, and hypomelanosis of Ito were investigated using a scanning electron microscope. The hairs of the patients showed different structural abnormalities; twisted hairs, longitudinal grooves, trichorrhexis nodosa as well as variations in the hair caliber. Hair shaft abnormalities, as in our patients with tricho-dento-osseous syndrome, and hypomelanosis of Ito have so far not been described.

Child, Preschool↗
PubMed2005

Early prosthetic treatment of patients with ectodermal dysplasia: a clinical report.

Hypohidrotic ectodermal dysplasia is a hereditary disorder of ectodermal origin. The early orthodontic treatment of 2 young boys suffering from hypohidrotic ectodermal dysplasia with partial maxillary and complete mandibular anodontia of the primary dentition is described. Both were treated with removable maxillary partial and mandibular complete dentures with individualized occlusion and age-appropriate artificial teeth. The results were significant improvements in speech, masticatory function, and facial esthetics, contributing to the development of normal dietary habits, and the improved and more rapid social integration of these children.

Anodontia↗
PubMed1993

Hypohydrotic ectodermal dysplasia affecting a female patient.

Ectodermal dysplasia syndromes are extremely rare. Hypohydrotic Ectodermal Dysplasia (HED) is classically an X-linked recessive condition affecting males, although a clinically identical autosomal recessive form of this condition has been described. The patient described in this article is female, who was initially thought to be a manifesting carrier for X-linked HED. However, the pedigree and examination of other family members suggest that she has the rarer autosomal recessive form. The patient is also edentulous and requires complete dentures, a concept regarded by many as a novelty in young children.

Anodontia↗
PubMed2001

Hypohidrotic ectodermal dysplasia: dental features and carriers detection.

Ectodermal dysplasia is a heterogeneous condition characterized by affected ectodermal structures, among which the teeth and skin with its derivatives (hair sweat glands) are the most frequent. The aim of this work is to present the analysis of dental traits in five families (affected boys and their mothers) with hypohidrotic ectodermal dysplasia (HED), and to evaluate the importance of orofacial and dental findings in the determination of female HED gene carriers. Hypodontia (oligodontia) was found in all the patients. The mothers, gene carriers, had either hypodontia or a reduced size of teeth with a particular morphological, peg shape. In patients with hypohidrotic ectodermal dysplasia the deciduous second molar teeth were mostly affected by taurodontism. The characteristic dental finding in heterozygous females of the mandibular peg shaped incisors and canines, as well as of hypodontia or peg shaped upper lateral incisors can be used as a reliable criterion for the detection of HED gene carriers.

Adult↗
PubMed1999

Hidrotic ectodermal dysplasia with corneal involvement.

BACKGROUND: Persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms. METHODS: We describe a father and son with hidrotic ectodermal dysplasia. RESULTS: Both patients had recurrent corneal epithelial defects from birth, corneal neovascularization, and strabismus. The father had cataracts with crystalline and amorphous inclusions at an early age. Both patients also had alopecia and skin abnormalities. CONCLUSIONS: A father and son with a previously unreported hidrotic ectodermal dysplasia and unusual corneal findings are described.

Adult↗
PubMed2001

Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterised by an abnormal development of eccrine sweat glands, hair and teeth. The ED1 gene responsible for the disorder undergoes extensive alternative splicing and to date few studies have concerned the full length transcript. We screened 52 unrelated families or sporadic cases for mutation in the full coding sequence of this gene. SSCA analysis or direct sequencing allowed identification of mutations in 34 families: one initiation defect, twenty-two missenses, two nonsense, eight insertions or deletions, and a large deletion encompassing all the ED1 gene. Fourteen of these mutations have not been previously described, including five missenses. One third of identified mutations were localised in codons 155 and 156, affecting CpG dinucleotides and nine of them correspond to the R156H missense. Hypothesis of a founder effect has been ruled out by haplotype analysis of flanking microsatellites. These recurrent mutations indicate the functional importance of the positively charged domain of the protein. Including our data, there are now 56 different mutations reported in 85 independent patients, that we have tabulated. Review of clinical features in the present series of affected males and female carriers showed no obvious correlation between the type of mutations, the phenotype and its severity. The X-chromosome pattern of inactivation in leucocytes showed little correlation with expressivity of the disease in female carriers. Finally this study is useful for functional studies of the protein and to define a diagnostic strategy for mutation screening of the ED1 gene.

Dosage Compensation, Genetic↗
PubMed1995

Ectodermal dysplasia: literature review and a case report.

Ectodermal dysplasia is a group of rare inherited disorders that affect various tissues of ectodermal origin. The mode of inheritance varies among the different disorders. The most common form of ectodermal dysplasia is hypohidrotic ectodermal dysplasia (HED), which most severely affects the hair, nails, teeth, and skin. Men are more often and more severely affected than women. However, transmission is from the female carrier, who usually appears normal and unaffected. Dental treatment for these patients varies on an individual basis. This article illustrates a case of overdentures in a 7-year-old boy with HED.

Anodontia↗
PubMed1990

Unusual cutaneous manifestations of anhidrotic ectodermal dysplasia--a case report.

Congenital ectodermal dysplasia is a group of familial disorders that affect tissues and organs of ectodermal origin to varying degrees. Our patient with classical X-linked anhidrotic ectodermal dysplasia (AED) showed unusual skin manifestations including cafe-au-lait spots on the face, neck, buttock, and lumbo-sacral region; depigmentation of mucous membrane of the lower lip, buccal cavity, and left arm; absence of tragii; plantar keratoderma; and kyphosis of lower cervical and upper thoracic spines which have not been previously reported in the world literature.

Adult↗
PubMed2002

Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case report.

Ectodermal dysplasia is a rare hereditary disorder with a characteristic physiognomy. The case of a 5-year-old child with hypohidrotic ectodermal dysplasia and complete anodontia is presented. Because of the anodontia and the need for treatment at an early age, the prosthetic management of such a young child can be difficult. Complete dentures were provided to encourage a normal psychological development and to improve the function of the stomatognathic system.

Anodontia↗
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↗
PubMed2005

A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia.

X-linked hypohidrotic ectodermal dysplasia (EDA) is characterized by the hypoplasia or absence of hair, teeth and sweat glands. In this study, the authors investigated the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. The only affected male fulfils the diagnostic criteria for this disorder. His parents were not consanguineous and both of them were healthy. After informed consent, genomic DNA was isolated from the peripheral blood lymphocytes or oral buccal epithelial cells of all members of the family. A polymerase chain reaction fragment containing exon 9 of the ED1 gene was amplified using primers. The patient's amplified fragment, as well as those from his father, mother and sister, were directly sequenced. The sequence from the patient revealed a point mutation (G1149A) in exon 8 of the ED1 gene, which changes codon 291 from glycine to arginine. Heterozygosity was demonstrated in his mother and sister. This mutation has not been reported previously. The amino acid substitution is predicted to disrupt the transmembrane domain, which strongly implies that this is the disease-causing mutation in the family.

Amino Acid Substitution↗
PubMed1998

Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.

X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common of the ectodermal dysplasias, results in the abnormal development of teeth, hair, and eccrine sweat glands. The gene responsible for this disorder, EDA1, was identified by isolation of a single cDNA that was predicted to encode a 135-amino-acid protein. Mutations in this splice form were detected in <10% of families with XLHED. The subsequent cloning of the murine homologue of the EDA1 gene (Tabby [Ta]) allowed us to identify a second putative isoform of the EDA1 protein (isoform II) in humans. This EDA1 cDNA is predicted to encode a 391-residue protein, of which 256 amino acids are encoded by the new exons. The putative protein is 94% identical to the Ta protein and includes a collagen-like domain with 19 repeats of a Gly-X-Y motif in the presumptive extracellular domain. The genomic structure of the EDA1 gene was established, and the complete sequence of the seven new exons was determined in 18 XLHED-affected males. Putative mutations, including 12 missense, one nonsense, and four deletion mutations, were identified in approximately 95% of the families. The results suggest that EDA1 isoform II plays a critical role in tooth, hair, and sweat gland morphogenesis, whereas the biological significance of isoform I remains unclear. Identification of mutations in nearly all of the XLHED families studied suggests that direct molecular diagnosis of the disorder is feasible. Direct diagnosis will allow carrier detection in families with a single affected male and will assist in distinguishing XLHED from the rarer, clinically indistinguishable, autosomal recessive form of the disorder.

Alternative Splicing↗
PubMed1987

Rapp-Hodgkin ectodermal dysplasia.

Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant condition characterized by distinctive craniofacies, cleft lip or palate, dental hypoplasia with caries, dystrophic nails, and decreased to absent sweat glands and hair follicles. We report the third family to be described, and distinguish the condition from similar syndromes.

Ectodermal Dysplasia↗
PubMed1991

Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia.

X linked hypohidrotic ectodermal dysplasia was studied in the dentition of both affected males and carrier females. Hypodontia was more severe in males than females and there were differences in the pattern of tooth absence between the sexes. Abnormal crown form, with the maximum diameter of the teeth being apically displaced, was noted particularly in the anterior teeth. Taurodontism was commonly seen radiographically.

Adolescent↗