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PubMed2004

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by abnormal hair, teeth, and sweat gland development. Although most cases of HED display X-linked recessive inheritance, autosomal dominant and autosomal recessive forms also exist. X-linked HED is caused by mutations in the EDA gene, and the autosomal forms result from mutations in either the EDAR gene or the EDARADD gene. In this study, we identified compound heterozygous mutations in the EDAR gene in a Japanese female patient with HED. On the maternal allele is a novel splice donor site mutation of intron 2 leading to the generation of unstable transcripts with exon 2 skipping; on the paternal allele is a novel R375H transition within the death domain of EDAR. Using expression studies in tissue culture cells, we found that the R375H substitution in EDAR caused loss of its affinity for EDARADD and reduced activation of the downstream target NF-kappaB. Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.

Adult↗
PubMed1975

The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet.

Syndromes of human congenital malformation may be classified be recognizing communities of syndromes that share multiple phenotypic similarities involving their principal diagnostic features. A community of syndromes that shares various expressions of ectodermal dysplasia and various deformities of the hands and feet is proposed; these syndromes are divisible into two classes according to the presence or absence of anomalies in the nasal or labial regions of the face. The dysmorphogenetic validity of the division is supported by the fact that the syndromes without nasal or labial anomalies have a high frequency of sensorineural deafness as one expression of ectodermal dysplasia whereas those without such anomalies do not. The usefulness of such a syndromal community as a base for evolving a taxonomic scheme of dysmorphogenetic relatedness amongst different syndromes is illustrated.

Abnormalities, Multiple↗
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↗
PubMed2007

Implants in children with ectodermal dysplasia: a case report and literature review.

The replacement of teeth by implants is usually restricted to patients with completed craniofacial growth. Implant insertions in children or adolescents are circumvented due to several unfavorable potential effects including trauma to tooth germs, tooth eruption disorders and multidimensional restrictions of skeletal craniofacial growth. Moreover, the functional and esthetic results of the oral rehabilitation are only temporary acceptable. However, to a small number of pediatric patients suffering congenitally from severe hypodontia caused by syndromes such as ectodermal dysplasia, conventional prosthodontic rehabilitations are insufficient. We report the case of a boy with ectodermal dysplasia who exhibited a severe hypodontia and who was treated with implants inserted into the anterior mandible at the age of 8 years. The implants were functionally loaded and resulted in a high patient satisfaction. We recommend the early insertion of dental implants in children with severe hypodontia. Reviewing the current literature, several aspects of syndromic hypodontia, patient selection and implant planning are discussed.

Anodontia↗
PubMed2004

Characteristics of mycobacterial infection in patients with immunodeficiency and nuclear factor-kappaB essential modulator mutation, with or without ectodermal dysplasia.

Hypomorphic mutations of the nuclear factor kappaB essential modulator gene cause ectodermal dysplasia and immunodeficiency. Affected patients have increased susceptibility to mycobacterial disease including cutaneous manifestations. We describe clinical and histopathologic characteristics of 5 patients with nuclear factor kappaB essential modulator gene mutations and mycobacterial infections, two of whom had mycobacterial cutaneous infections.

Adolescent↗
PubMed1998

Management of ectodermal dysplasia: a literature review.

Oral rehabilitation is commonly difficult in cases of ectodermal dysplasia because the affected individuals are quite young when they are evaluated for treatment. Most affected children require extensive dental treatment in order to restore their appearance and help them develop a positive self-image. This article reviews the dental management of the disorder, including its psychosocial aspects and timing of different modalities.

Child↗
PubMed2000

Anhidrotic Ectodermal Dysplasia (Christ-Seimens-Touraine syndrome)--case report with a review.

Anhidrotic ectodermal dysplasia commonly transmitted as an x-linked recessive disorder is very rare. The complete syndrome occurs in males and females are carriers. Our patients comprised two sisters who had the complete syndrome. This is much rarer and is reported to be inherited as autosomal recessive disorder, there are only a few case reports of females presenting with a complete syndrome in the literature.

Adolescent↗
PubMed2002

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.

BACKGROUND: Germline mis-sense mutations in the DNA-binding domain of the p63 gene have recently been established as the molecular basis for the autosomal dominant EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome. OBJECTIVES: To examine genomic DNA from a 36-year-old woman, her 58-year-old father and her 11-year-old son, all with the EEC syndrome, to determine the inherent p63 mutation and, after genetic counselling, to use knowledge of the mutation to undertake a first-trimester DNA-based prenatal diagnosis in a subsequent pregnancy. METHODS: Fetal DNA was extracted from chorionic villi and used to amplify exon 7 of p63 containing the potential mutation. Direct sequencing and restriction endonuclease digestion (loss of AciI site on mutant allele) were used for DNA-based prenatal diagnosis. RESULTS: We identified a heterozygous arginine to histidine p63 mutation, R279H, in all three affected individuals. Prenatal diagnosis demonstrated a homozygous wild-type sequence predicting an unaffected child: a healthy boy was subsequently born at full-term. CONCLUSIONS: These data expand the p63 gene mutation database and provide the first example of a DNA-based prenatal test in this ectodermal dysplasia syndrome.

Abnormalities, Multiple↗
PubMed1998

The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone.

Anhidrotic ectodermal dysplasia (EDA) is characterized by defects in the development of teeth, hair, and sweat glands. To study the expression of the human gene defective in EDA in human fetal development (Weeks 6-23 of gestational age) and in adult tissues, in situ hybridization and immunohistochemistry were used. First signs of expression were detected at Week 8 in epidermis and in neuroectodermal cells. Starting at Week 12, osteoblasts and thymus were positive for EDA mRNA. Hair follicles expressed EDA mRNA from 18 weeks. The presence of the EDA protein coincided with mRNA expression in the tissues examined. The expression pattern of the EDA gene is consistent with typical involvement of the skin in the syndrome. However, the expression is not limited to the ectodermal tissues and many sites of expression are not obviously reflected in the clinical features of the syndrome.

Adult↗
PubMed1978

Heat loss in anhidrotic ectodermal dysplasia.

The dynamics of heat loss by 2 patients with classic anhidrotic ectodermal dysplasia were studied. Both were active in high school athletics and avoided heat injuries by various forms of behavior modification. Elevated core and skin temperature measurements were found at rest in comfortable environments. In a warm environment 35-45% of the heat generated was lost by radiation, 44-52% by conduction and convection, and only 4-6% by evaporation. Heat loss in control subjects was 9% by radiation, 17% by conduction/convection, and 67% by evaporation. The dry routes of heat dissipation used by the anhidrotic patients were inadequate to prevent a rise in core temperature.

Adolescent↗
PubMed2000

A 1.5-Mb physical map of the hidrotic ectodermal dysplasia (Clouston syndrome) gene region on human chromosome 13q11.

The HED (hidrotic ectodermal dysplasia) or Clouston syndrome gene (named ED2) has been mapped to the pericentromeric region of chromosome 13 (13q11) to a 2.4-cM interval flanked by markers D13S1828 and D13S1830. We have developed a BAC/PAC-based contig map of this region. This contig, comprising 23 clones and spanning 1.5 Mb, was established by mapping of 27 BAC/PAC end-derived STSs, 11 known polymorphic markers, 2 previously mapped genes, and 14 ESTs. The genomic clone overlaps were confirmed by restriction fragment fingerprint analysis. This contig provides the basis for genomic sequencing and gene identification in the ED2 critical region. Of the 14 ESTs mapped to the contig, 6 show homology to human genes and 8 appear to be novel. Expression patterns of the genes/ESTs were tested by Northern blot and RT-PCR. Full characterization of some of these genes, as well as the novel ESTs, will be useful in assessing their involvement in the HED/Clouston syndrome.

Chromosomes, Human, Pair 13↗
PubMed1982

HLA antigens in bullous epidermolysis, congenital ichthyosis and ectodermal dysplasia.

HLA-ABC antigen typing was carried out in 4 homozygous patients and 10 family members from three families with bullous epidermolysis, 7 homozygous patients and 19 family members of six families with ichthyosis, and 4 homozygous patients and 8 family members of 4 families with ectodermal dysplasia. The type of heredity was established on the basis of genetical evidence and the clinical picture. In bullous epidermolysis cases autosomal recessive heredity was detected in two families with congenital bullous epidermolysis, and autosomal heredity in two families with dystrophic bullous epidermolysis. The HLA-Aw 24, B5 combination, which was thought to be significant in epidermolysis bullosa, was found in one, B5 alone in two, out of the four families. In congenital ichthyosis autosomal recessive heredity was detected in two families out of five. In one, X-linked recessive heredity was found, and in two families X-linked recessive heredity could be supposed. In three families out of the five with congenital ichthyosis, the A2, B18 antigen combination was found. In a family where two infants died from the most severe form of ichthyosis, epidermolysis and psoriasis also occurred. In this family two grandfathers were brothers, and one of the two was a carrier of the Aw24, B5 combination. In the case of ectodermal dysplasia, in one out of four families X-linked recessive heredity, in another autosomal recessive heredity was detected. In two families X-linked recessive heredity could be supposed as only the male children were affected and also on the basis of data in the literature. The HLA-A26, B38 antigen combination occurred in three of these four families.

Child↗
PubMed1997

Trichorrhexis nodosa and lip pits in autosomal dominant ectodermal dysplasia--central nervous system malformation syndrome.

A Dandy-Walker-like malformation was observed in a retarded girl who had signs of hidrotic ectodermal dysplasia. This is the third report of the rare triad ectodermal dysplasia-CNS malformation-mental retardation. We observed additional findings, such as submucous cleft palate with lip pits and trichorrhexis nodosa. The proposita's mother had similar hair and facial changes. Two maternal relatives had cleft palate. Autosomal dominant inheritance is suggested.

Abnormalities, Multiple↗