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At least 73 records · Page 4Linked to original sources
PubMed1997

Ectodermal dysplasia: a case report.

Ectodermal dysplasia is a rare group of inherited disorders, transmitted as an X-linked recessive. Patients with ectodermal dysplasia usually exhibit a fine smooth dry skin, with partial or complete absence of sweat glands. The main dental manifestation is hypodontia, which is of variable severity. Peg shaped teeth and reduced vertical dimension are also frequently present. In this report a case of ectodermal dysplasia which presented at the Cork University Dental School and Hospital is discussed.

Child↗
PubMed2001

Clinical treatment of ectodermal dysplasia: a case report.

Ectodermal dysplasia is both physically and emotionally devastating to patients. With proper restorative intervention, the quality of life can be improved for patients with ectodermal dysplasia. This case report outlines a method of restoring function and esthetics for a 14-year-old boy with ectodermal dysplasia. It is important that these patients be treated at an early age to aid in their social interactions.

Adolescent↗
PubMed2006

Hypohidrotic ectodermal dysplasia (HED).

Hypohidrotic Ectodermal Dysplasia (HED) is a hereditary congenital disorder of ectodermal origin. It is characterized by lack of sweat glands (hypohidrosis), nail dystrophy(onychodysplasia), alopecia (hypotrichosis), defective palms and soles (palmoplantar hyperkeratosis) and the oral presentations of partial absence of teeth (hypodontia) or complete absence of teeth (anodontia). Hypodontia of primary and permanent dentition is one of the most frequently occurring oral symptoms in HED patients. These features of poor aesthetic affect the social and the psychological well-being of the patient. This case report describes the prosthetic rehabilitation of a HED patient.

Adolescent↗
PubMedDate not supplied

Osseointegrated implants in the oral rehabilitation of a patient with cleft lip and palate and ectodermal dysplasia: a case report.

Hereditary ectodermal dysplasia is an inherited disorder characterized by aplasia or dysplasia of ectodermal tissues, such as hair, nails, teeth, and skin, that occurs in approximately 1 in every 100,000 live births. Dental abnormalities and abnormal facial appearance are of major concern in childhood and adolescence, since they can restrict the individual socially and affect his or her self-confidence. Oral rehabilitation in the early stages of the patient's life may provide functional and esthetic restoration as well as safeguard psychologic health. This report presents the clinical procedures involved in the rehabilitation of a 10-year-old female patient with complete bilateral cleft lip and palate and ectodermal dysplasia.

Anodontia↗
PubMed2001

Craniofacial tissues including tooth buds in fetal hypohidrotic ectodermal dysplasia.

OBJECTIVE: Hypohidrotic ectodermal dysplasia (HED) comprises defects in hair, teeth, and sweat glands. Disturbances in other ectodermal tissues have been associated with the condition. Our objective was to examine ectodermal craniofacial structures histologically in a fetus with HED and to compare the findings to similar structures in normal control fetuses. MATERIALS AND METHODS: A male fetus diagnosed with HED was therapeutically aborted in the 15th week of gestation. One male and two female healthy fetuses were used as normal controls. All fetuses were examined with parental consent, and had comparable sizes. Their bone maturation stage in the hand was identical. Tissue blocks from the craniofacial region were excised from all fetuses and prepared for histological analysis (formalin fixed, stained with toluidine blue or Alcian blue). The tissues examined were: tooth buds, skin and skin appendages, oral mucosa including minor salivary glands, major salivary glands, lacrimal glands, and adenohypophysis. RESULTS: Fewer tooth buds, minor salivary glands, and hair follicles were observed in the HED fetus as compared to controls. The structures of the epidermal components in the developing HED organs were loose and disorganised. The adhesion between the ectodermal and mesenchymal organ components in the HED fetus seemed to be disturbed.

Ectodermal Dysplasia↗
PubMed1976

Considerations in dental treatment of children with ectodermal dysplasia.

Characteristics of ectodermal dysplasia and agammaglobulinemia have been presented and a case in a 6 1/2-year-old boy having both genetic diseases is reported. The child had been mocked by his peers at school. A maxillary overlay denture and mandibular cast denture were constructed using a Baker bar and cast gold thimble crowns. The parents reported that the patients personality changed favorably after dental treatment was completed. He is now 13 years of age, has had his dentures replaced once, and enjous a rather active life with the aid of antibiotics and supplemental globulins.

Agammaglobulinemia↗
PubMed2005

Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a human heritable disorder characterized by sparse hair, a lack of sweat glands and malformation of teeth. There are X-linked, autosomal recessive and autosomal dominant forms of this disorder. Mutations in the EDA gene cause X-linked HED and mutations in either the EDAR or the EDARADD genes cause autosomal forms of HED. OBJECTIVES: To identify pathogenic mutations in two consanguineous Pakistani families (A and B) with 11 affected individuals demonstrating the autosomal recessive form of HED. METHODS: Genotyping of 17 members of the two families, including eight affected and nine unaffected individuals, was carried out by using polymorphic markers D2S293, D2S1893 and D2S1891, which are closely linked to the EDAR gene on chromosome 2q11-q13. To screen for mutations in the EDAR gene, all of its exons and splice junctions were polymerase chain reaction amplified from genomic DNA and sequenced directly in an ABI Prism 310 automated sequencer. RESULTS: Genotyping results showed linkage in both the Pakistani families to the EDAR locus. Sequence analysis of the EDAR gene identified two novel mutations in the families: a missense mutation (G382S) in family A and a 4-bp deletion (718delAAAG) in family B. CONCLUSIONS: We describe novel mutations in the EDAR gene in two Pakistani families affected with the autosomal recessive form of HED. Our findings extend the body of evidence that supports the importance of the ectodysplasin A1 isoform receptor, a member of the tumour necrosis factor receptor family, in the development of ectodermal appendages.

Adolescent↗
PubMed1996

Ectodermal dysplasia, Rapp-Hodgkin type in a mother and severe ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) in her child.

We describe a mother with manifestations most consistent with the Rapp-Hodgkin type of ectodermal dysplasia and her malformed newborn son with ectrodactyly, ectodermal dysplasia, cleft palate, and bilateral cystic and obstructive ureteroceles with hydroureters and cystic renal dysplasia as described in the EEC syndrome. This observation suggests that the Rapp-Hodgkin type of ectodermal dysplasia and EEC syndrome, both defined as autosomal dominant conditions with variable expression, may be manifestations of the same mutated gene. We also want to emphasize that urogenital anomaly is another hallmark of the EEC syndrome.

Abnormalities, Multiple↗
PubMed2003

A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

BACKGROUND: hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder affecting the skin and its derivatives. It is characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. To date, all mutations have been involving in three codons: G11R, A88V and V37E in the connexin 30 (Cx30) gene have been shown to cause this disorder. OBJECTIVE: in order to analyze the mutations of the Cx30 gene in Chinese Han patients with HED. METHODS: we collected a large Chinese HED family consisting of a total of 81 individuals including 28 HED patients (14 males and 14 females). The whole coding region of Cx30 was amplified by polymerase chain reaction and products analyzed by direct sequencing, then further confirmed at the mRNA level by RT-PCR. RESULTS: we detected a transition, 31(G-->A), leading to a missense mutation (G11R) in genomic DNAs of 18 patients, and the point mutation was not found in 16 normal individuals in this HED family and in 188 unrelated, population-match control individuals. The transcription of mutated allele was confirmed by RT-PCR of Cx30 mRNA. CONCLUSION: our data suggests that a G11R missense mutation in the Cx30 gene can cause HED in Chinese Han population and emphasizes the importance of screening for this as well as other Cx30 gene mutations in the HED.

Adult↗
PubMed1999

Functional characterization of the promoter of the X-linked ectodermal dysplasia gene.

Anhidrotic ectodermal dysplasia (EDA) is a disorder characterized by poor development of hair, teeth, and sweat glands, and results from lesions in the X-linked EDA gene. We have cloned a 1.6-kilobase 5'-flanking region of the human EDA gene and used it to analyze features of transcriptional regulation. Primer extension analysis located a single transcription initiation site 264 base pairs (bp) upstream of the translation start site. When the intact cloned fragment or truncated derivatives were placed upstream of a reporter luciferase gene and transfected into a series of cultured cells, expression comparable with that conferred by an SV40 promoter-enhancer was observed. The region lacks a TATA box sequence, and basal transcription from the unique start site is dependent on two binding sites for the Sp1 transcription factor. One site lies 38 bp 5' to the transcription start site, in a 71-bp sequence that is sufficient to support up to 35% of maximal transcription. The functional importance of the Sp1 sites was demonstrated when cotransfection of an Sp1 expression vector transactivated the EDA promoter in the SL2 Drosophila cell line that otherwise lacks endogenous Sp1. Also, both Sp1 binding sites were active in footprinting and gel shift assays in the presence of either crude HeLa cell nuclear extract or purified Sp1 and lost activity when the binding sites were mutated. A second region involved in positive control was localized to a 40-bp sequence between -673 and -633 bp. This region activated an SV40 minimal promoter 4- to 5-fold in an orientation-independent manner and is thus inferred to contain an enhancer region.

Base Sequence↗
PubMed2000

Clinical findings in mosaic carriers of hypohidrotic ectodermal dysplasia.

BACKGROUND: Hypohidrotic ectodermal dysplasia (HED) is a severe developmental disorder in which nonallelic genetic heterogeneity has been demonstrated. Even though X-linked and autosomal recessive forms are phenotypically similar, identification of the way of transmission is mandatory to give reliable genetic counseling to the family and to address molecular studies. Complete examination of relatives of patients with HED and identification of carriers of partial forms of the disorder in their families is the key to clarifying intrafamilial genetic transmission. OBSERVATIONS: Seven patients diagnosed as having HED and their first-degree relatives were carefully examined and tested with starch-iodine. Useful signs for identifying possible carriers of and postzygotic mosaics for X-linked HED and for finding distinctive features between the X-linked and the autosomal recessive forms of the disorder were recorded. Of these, the most striking finding was the clinical evidence of the distribution of normal and abnormal skin along Blaschko lines in heterozygous and postzygotic mutation carriers of X-linked HED. Six heterozygous female carriers of X-linked HED, 2 males with postzygotic mutations for X-linked HED, and 1 female with autosomal recessive HED were clinically identified. At the end, 6 families had a diagnosis of X-linked HED, while 1 had a diagnosis ofautosomal recessive HED. Clinical data, family history, and starch-iodine test results were never in conflict in the 7 families. CONCLUSIONS: Careful clinical examination is the best way to detect heterozygous carriers and postzygotic mutation of X-linked HED. Heterozygous parents of patients with autosomal recessive HED show no features of the disorder. The starch-iodine test is not superior to a clinical examination in heterozygous carrier detection but may play a confirmative role and be of help in differentiating X-linked and autosomal recessive HED in isolated patients.

Adult↗
PubMed1990

Structural hair abnormalities in ectodermal dysplasia.

The hair of patients with three ectodermal dysplasias--ectrodactyly ectodermal dysplasia clefting syndrome (EEC); orofacial-digital syndrome (OFD) type I; and anhidrotic ectodermal dysplasia syndrome (AED)--were studied by scanning electron microscopy. While no pathognomonic abnormalities were noted for each condition, hair shaft structural defects were evident in all patients studied. The EEC clefting syndrome and OFD I shared the most deforming defects, while AED had fewer.

Abnormalities, Multiple↗
PubMed1979

Anhidrotic ectodermal dysplasia with lacrimal anomalies.

Ectodermal dysplasia and its related disorders may present with ocular symptoms due to involvement of the ectodermal components of the eye. This paper reports a case of congenital anhidrotic ectodermal dysplasia presenting to the ophthalmologist with epiphora due to lacrimal atresia. The embryonic origin of the lacrimal system suggests that lacrimal anomalies in association with ectodermal disorders are commoner than reports indicate. Their management consists in accurate evaluation of the anomaly followed by surgery.

Child↗
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↗
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↗
PubMed1991

Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.

X linked hypohidrotic ectodermal dysplasia (XHED) affects many epithelial functions, including sweat gland formation. Female carriers who manifest XHED may have defective dentition or a patchy distribution of sweating or both, as determined by starch and iodine sweat testing. Such sweat testing can be useful in assigning carrier status to at risk females in XHED families, and in obtaining an accurate diagnosis for isolated females who present with features of ectodermal dysplasia. The advantages of diagnosing female carriers of XHED include the optimisation of neonatal and paediatric care for affected male infants, who may be at substantial risk of death in infancy.

Adult↗
PubMed2001

Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle.

Anhidrotic ectodermal dysplasia (ED1) is characterized by hypotrichosis, reduced number of sweat glands, and incisior anodontia in human, mouse, and cattle. In affected humans and mice, mutations in the ED1 gene coding for ectodysplasin 1 are found. Ectodysplasin 1 is a novel trimeric transmembrane protein with an extracellular TNF-like signaling domain that is believed to be involved in the formation of hair follicles and tooth buds during fetal development. We report the construction of a 480-kb BAC contig harboring the complete bovine ED1 gene on BTA Xq22-Xq24. Physical mapping and sequence analysis of the coding parts of the ED1 gene revealed that a large genomic region including exon 3 of the ED1 gene is deleted in cattle with anhidrotic ectodermal dysplasia in a family of German Holstein cattle with three affected maternal half sibs.

Amino Acid Sequence↗