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PubMed1989

Acetylcholine-induced activation of the eccrine sweat glands in a case of hypohidrotic congenital ectodermal dysplasia.

In a male patient suffering from congenital ectodermal dysplasia with sweating only on the plantar and palmar surface, we found that the anhidrotic eccrine sweat glands became able to produce sweat after repeated local application of acetylcholine. We ultrastructurally examined the sweat glands in skin biopsies before and after acetylcholine treatment. The secretory portion of the sweat glands of the right plantar region was characterized by well-developed basal infoldings and intercellular interdigitations, and also by dilated intercellular spaces and canaliculi. In the flexor region of the right brachium (anhidrotic area), the secretory portion showed hypoplastic features, especially denoted by the presence of few locally distributed basal infoldings and intercellular canaliculi. The secretory cells seemed to be hypofunctional with the nuclei containing much heterochromatin. After treatment, in the flexor region of the left brachium and the right infraclavicular region, where sweating was induced, the secretory portion appeared to be considerably activated, though hypoplastic structures were unchanged: the secretory cell nuclei contained dispersed chromatin, the Golgi apparatus in the dark cells was well developed, and both in the clear cells and the myoepithelial cells micropinocytotic vesicle-like structures increased in number. In ductular cells, mitochondria also increased in number.

Acetylcholine↗
PubMed1992

High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

The X-linked hypohidrotic ectodermal dysplasia (EDA) locus has been previously localized to the subchromosomal region Xq11-q21.1. We have extended our previous linkage studies and analyzed linkage between the EDA locus and 10 marker loci, including five new loci, in 41 families. Four of the marker loci showed no recombination with the EDA locus, and six other loci were also linked to the EDA locus with recombination fractions of .009-.075. Multipoint analyses gave support to the placement of the PGK1P1 locus proximal to the EDA locus and the DXS453 and PGK1 loci distal to EDA. Further ordering of the loci could be inferred from a human/rodent somatic cell hybrid derived from an affected female with EDA and an X;9 translocation and from studies of an affected male with EDA and a submicroscopic deletion. Three of the proximal marker loci, which showed no recombination with the EDA locus, when used in combination, were informative in 92% of females. The closely linked flanking polymorphic loci DXS339 and DXS453 had heterozygosities of 72% and 76%, respectively, and when used jointly, they were doubly informative in 52% of females. The human DXS732 locus was defined by a conserved mouse probe pcos169E/4 (DXCrc169 locus) that cosegregates with the mouse tabby (Ta) locus, a potential homologue to the EDA locus. The absence of recombination between EDA and the DXS732 locus lends support to the hypothesis that the DXCrc169 locus in the mouse and the DXS732 locus in humans may contain candidate sequences for the Ta and EDA genes, respectively.

Base Sequence↗
PubMed2003

Craniofacial anthropometric pattern profile in hypohidrotic ectodermal dysplasia--application in detection of gene carriers.

Hypohidrotic ectodermal dysplasia (HED) is characterized by clinical manifestations of severe hypodontia or anodontia, hypotrichosis, hypohidrosis, and specific facial appearance. Affected males show complete expression of clinical features of this condition. Their mothers, who are gene carriers, express only some signs, which are usually very mild. Currently available clinical methods are not sufficient for routine identification of the HED heterozygous gene carriers. The purpose of this study was to identify and describe the facial characteristics of HED patients and their mothers and to evaluate the usefulness of craniofacial pattern profile analysis (CFPP) in the diagnosis of this syndrome and the detection of gene carriers. In this study six affected males and their mothers were evaluated. Z-scores for each variable were calculated and compared with age- and sex-matched controls. Anthropometric analysis showed a specific dysmorphic pattern in CST patients that includes decreased skull base width (t-t: -1.67 Z); decreased forehead width (ft-ft: -1.8 Z), decreased midface depth (sn-t: -2.02 Z), markedly decreased total facial height (n-gn: -3.4 Z), and markedly decreased maxillary arc (t-sn-t: -2.5 Z). Gene carriers showed a similar tendency in their pattern profiles. They showed the same tendency towards lower Z-values for forehead width, facial height, and mouth width. The values for these measurements were between those of the affected and healthy controls. The most pronounced findings were increased head width (eu-eu: +2.83 Z), increased lower face width (go-go: +2.06 Z), and reduction of total facial height (n-gn: -0.95 Z). They also displayed increased nose width (al-al: +2.41 Z) and increased biocular distance (ex-ex: +2.01 Z). When used in conjunction with other methods the anthropometrics pattern profile analysis can considerably enhance detection of gene carriers for HED and increase objective assessment of the craniofacial region in HED patients.

Anodontia↗
PubMed2004

Fixed rehabilitation of a patient with hypohidrotic ectodermal dysplasia using zygomatic implants.

We found few references in the dental literature on implant rehabilitation of patients with hypohidrotic ectodermal dysplasia and only 1 case on zygomatic fixations and maxillary prosthesis in a patient with hypohidrotic ectodermal dysplasia. Two zygomatic fixations were placed according to the sinus slot technique, together with 3 implants in the anterior maxillary region. After 6 months, an upper complete prosthesis was screwed onto the implants, and lower overdentures were placed over the remnant canines. After 18 months of follow-up the patient reported important improvement in oral function and self-esteem.

Adult↗
PubMed2000

The ectodermal dysplasia receptor activates the nuclear factor-kappaB, JNK, and cell death pathways and binds to ectodysplasin A.

The ectodermal dysplasia receptor (EDAR) is a recently isolated member of the tumor necrosis factor receptor family that has been shown to play a key role in the process of ectodermal differentiation. We present evidence that EDAR is capable of activating the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways and that these activities are impaired in mutants lacking its death domain or those associated with anhidrotic ectodermal dysplasia and the downless phenotype. Although EDAR possesses a death domain, it did not interact with the death domain-containing adaptor proteins TRADD and FADD. EDAR successfully interacted with various TRAF family members; however, a dominant-negative mutant of TRAF2 was incapable of blocking EDAR-induced nuclear factor-kappaB or JNK activation. Collectively, the above results suggest that EDAR utilizes a novel signal transduction pathway. Finally, ectodysplasin A can physically interact with the extracellular domain of EDAR and thus represents its biological ligand.

Cell Death↗
PubMedDate not supplied

Gene defect in ectodermal dysplasia implicates a death domain adapter in development.

Members of the tumour-necrosis factor receptor (TNFR) family that contain an intracellular death domain initiate signalling by recruiting cytoplasmic death domain adapter proteins. Edar is a death domain protein of the TNFR family that is required for the development of hair, teeth and other ectodermal derivatives. Mutations in Edar-or its ligand, Eda-cause hypohidrotic ectodermal dysplasia in humans and mice. This disorder is characterized by sparse hair, a lack of sweat glands and malformation of teeth. Here we report the identification of a death domain adapter encoded by the mouse crinkled locus. The crinkled mutant has an hypohidrotic ectodermal dysplasia phenotype identical to that of the edar (downless) and eda (Tabby) mutants. This adapter, which we have called Edaradd (for Edar-associated death domain), interacts with the death domain of Edar and links the receptor to downstream signalling pathways. We also identify a missense mutation in its human orthologue, EDARADD, that is present in a family affected with hypohidrotic ectodermal dysplasia. Our findings show that the death receptor/adapter signalling mechanism is conserved in developmental, as well as apoptotic, signalling.

Amino Acid Sequence↗
PubMed2006

Multiple agenesis and anhidrotic ectodermal dysplasia: a comparative longitudinal study of dental similarities and genetic differences in two groups of children.

AIM: Dental anomalies in shape and number may be present isolated or associated with other manifestations. In anhidrotic ectodermal dysplasia they occur more frequently and severely. The authors examined a group of children with similar dental anomalies but no other ectodermal or extra-ectodermal signs. METHODS: This study makes a comparative evaluation of similarities and differences of dental anomalies between two groups: A anhidrotic ectodermal dysplasia and B similar dental finding but without extra- dental anomalies. RESULTS: In group A, the average number of agenesis in primary teeth was 3.5 (upper) and 5.33 (lower); in permanent teeth it was 5.4 and 5.8, respectively. In group B, the average was 1.62 (upper) and 0.25 (lower) in primary teeth, and 4.0 and 4.25 in permanent teeth respectively, with no constant pattern of occurrence. The study of tooth morphology of both groups revealed numerous anomalies in both dentitions. No differences were found in the average number of agenesis and morphological anomalies in the permanent teeth between both groups, but in the primary dentition group B presented a lower degree of incidence. CONCLUSION: The presence of almost normal primary dentition (regarding to number), but with morphological anomalies, should lead to suspect their exacerbation in the permanent dentition.

Anodontia↗
PubMed2004

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.

BACKGROUND: Many receptors rely on the appropriate activation of nuclear factor (NF) kappa B to induce cellular function. This process depends critically on the phosphorylation of the inhibitor of NF-kappa B (I kappa B) by the I kappa B kinase. This targets I kappa B for ubiquitination and degradation, allowing NF-kappa B to translocate to the nucleus, where it can direct transcription. Hypomorphic human mutations affecting one I kappa B kinase component, the NF-kappa B essential modulator (NEMO), result in impaired signaling from receptors required for ectodermal development and immune function. Male subjects with these mutant NEMO molecules have an X-linked syndrome known as ectodermal dysplasia with immunodeficiency, which is characterized by severe infections, with herpesviruses, bacteria, and mycobacterial susceptibility. OBJECTIVE: We sought to genetically and biochemically characterize a patient with a mutant NEMO molecule without ectodermal abnormalities. METHODS: We evaluated NEMO in a patient who had immunodeficiency and atypical mycobacterial infection but normal ectoderm. RESULTS: We identified a novel NEMO mutant causing immunodeficiency without ectodermal dysplasia. The mutation, which altered the exon 9 splice site, was present in cells of ectodermal and hematopoetic origin and resulted in a heterogeneous mixture of mutant and wild-type cDNA species. Immunologic function was variably impaired, with reduced CD40-induced B-cell proliferation, partially reduced NF-kappa B p65 nuclear translocation, and variable Toll-like receptor-induced TNF production. This variability might be explained by an inconsistent ratio of mutant to wild-type NEMO. The lack of any ectodermal phenotype, however, suggested a separation in the hematopoetic and ectodermal function of NEMO that leads to NF-kappa B activation. CONCLUSION: Mutation of the gene encoding NEMO can result in immunodeficiency without ectodermal dysplasia.

Adolescent↗
PubMed2006

Palatal size and shape in 6-year olds affected by hypohidrotic ectodermal dysplasia.

OBJECTIVE: To analyze the size and shape of the hard tissue palate of Italian subjects with hypohidrotic ectodermal dysplasia (HED). MATERIALS AND METHODS: The morphology and the dimensions of the hard tissue palate were analyzed in eight 6-year-old boys affected by HED. Four of the boys were completely edentulous and four partially dentate. Palatal landmarks were identified on stone casts and digitized with three-dimensional computerized electromagnetic instrumentation. Palatal length, slope, width, and maximum palatal height in both the sagittal and frontal planes were measured. From the coordinates of palatal landmarks, a mathematical equation of palatal shape was constructed, independent of size. HED palatal data were compared with reference data obtained from 12 healthy boys with a complete deciduous dentition. RESULTS: Palatal length and height in both the sagittal and frontal planes were significantly reduced in HED as compared with control individuals. A less steep (not significant) palatal slope was found in HED than in reference subjects, whereas similar palatal width values were observed. All palatal measurements were larger in partially dentate than in edentulous patients. Both HED and edentulousness influenced palatal shape. The HED boys had a relatively lower palate than the reference boys. In the edentulous HED boys, the hard tissue palate was relatively lower than in partially dentate HED subjects. CONCLUSIONS: Palatal size and shape were significantly modified by the presence of hypohidrotic ectodermal dysplasia, and the major alterations were found in edentulous HED subjects.

Anodontia↗
PubMed1993

Repair of saddle nose deformity in Wegener's granulomatosis and ectodermal dysplasia.

Two cases are reported involving surgical treatment of a saddle nose deformity due to Wegener's granulomatosis and ectodermal dysplasia, respectively. The association of ozena with both diseases requires special consideration for any type of transplants because of a high risk of infectious complications. By extranasal incisions the nasal dorsum has been successfully reconstructed by transplanting autogenic conchal cartilage. There has been no resorption or displacement of the transplant after twelve months in the case of ectodermal dysplasia, and after 25 months in the patient with Wegener's granulomatosis despite a severe recurrence of this disease.

Adult↗
PubMed1993

Congenital contractures, ectodermal dysplasia, cleft lip/palate, and developmental impairment: a distinct syndrome.

Brothers were affected with severe congenital contractures, multiple cutaneous manifestations of ectodermal dysplasia, cleft lip/palate, and psychomotor and growth impairment. High resolution prometaphase chromosomes were normal. Molecular studies of DNA markers, closely flanking the X-linked hypohidrotic ectodermal dysplasia locus, did not show evidence of a submicroscopic deletion from the Xq12-q13 region. The parents and a normal sister exhibited none of these findings. This constellation of anomalies appears to represent a unique AR or XLR syndrome.

Abnormalities, Multiple↗
PubMed2005

Genetic mapping of canine multiple system degeneration and ectodermal dysplasia loci.

We characterized a movement disorder of Chinese Crested dogs clinically and pathologically indistinguishable from canine multiple system degeneration (CMSD) previously recognized in Kerry Blue Terriers. This fatal disease segregated as an autosomal recessive in a 51-dog pedigree of both breeds and their crosses. The occurrence of affected dogs among first-generation crosses demonstrated that the mutations causing multiple system degeneration in these breeds are allelic. The CMSD locus maps to CFA1 (LOD > 18) and haplotype analysis narrowed the CFA1 target region to a 15-Mb segment that contains orthologs of genes on HSA6, including PARK2, the gene for the ubiquitin ligase parkin. Mutations in human PARK2 cause the most common form of familial Parkinson's disease, autosomal recessive juvenile parkinsonism, which has clinical and pathological similarities to canine multiple system degeneration. A second phenotype, canine ectodermal dysplasia (CED), segregated in the pedigree as an autosomal dominant with homozygous lethality. Dogs with ectodermal dysplasia have a sparse hair coat and abnormal dentition that is characteristic of the "hairless" variety of Chinese Cresteds. CED mapped to a region of CFA17 (LOD > 14) containing orthologs from HSA2. EDAR, the gene for the ectodysplasin A1 receptor, occurs on HSA2 but was excluded as the cause of canine ectodermal dysplasia.

Animals↗
PubMed2002

Hypohidrotic ectodermal dysplasia associated with squamous cell carcinoma of the trachea.

Hypohidrotic ectodermal dysplasia (HED) is a rare condition characterized by abnormalities to ectodermal derived tissues although other organs or systems are frequently involved. Patients with HED can have a number of symptoms that may lead them to present to the otolaryngologist. We present a case of a 37-year-old female with HED who initially presented with nasal obstruction but then very rapidly developed stridor due to a tracheal squamous cell carcinoma. We suggest a possible association between HED and carcinoma of the upper respiratory tract that has not previously been reported.

Adult↗
PubMed2006

Ectodermal dysplasia: Retrospective study of fifteen cases.

The aim of this article is to review possible cranio-maxillofacial deformative consequences associated with hypohidrotic ectodermal dysplasia and embryonic malformations, which include dental ageneses, and describe the oral habilitation. Hypohidrotic ectodermal dysplasia patients had a clinical examination and underwent radiographic and Steiner's analyses and a respiratory capability test before assessment and treatment. Fifteen patients (eight males and seven females, aged 5-45 years) had tooth ageneses (from hypodontia to anodontia) associated with cutaneous dyshydrosis and hair and nail dystrophy. Most patients had sparse or absent hair, a short face with an unusual facial concavity, a maxillary retrusion and a relative mandibular protrusion. Dentists must conduct a comprehensive and multidisciplinary approach to these patients in order to improve their dental, masticatory, growth and orthognathic conditions.

Adolescent↗
PubMedDate not supplied

Growth analysis of a patient with ectodermal dysplasia treated with endosseous implants: a case report.

Congenital absence of multiple teeth and poorly developed alveolar ridges are associated with ectodermal dysplasia. Affected patients often require dental prosthetic treatment during their developmental years. Maxillofacial growth and development in a preadolescent female patient with ectodermal dysplasia following oral rehabilitation with maxillary and mandibular endosseous dental implants is reported. Four maxillary and 4 mandibular implants were successfully integrated and restored at 8 years of age. Growth analysis 12 years later revealed that the implants followed maxillary and mandibular growth displacement. Minor impaction of the maxillary implants was observed, and mandibular implants were affected by the mandibular growth rotation, which led to a change in implant inclination. The treatment outcome is compared to similar previously reported studies and cases.

Anodontia↗
PubMed1984

A newly recognized feature of ectrodactyly, ectodermal dysplasia, clefting (EEC) syndrome: comedone naevus.

A 21-year-old Black South African man with clinical features of ectrodactyly, ectodermal dysplasia, cleft lip/palate (EEC) syndrome is described. The patient had the following anomalies: hypoplastic, peg-shaped teeth; fine, silky hair; absent lacrimal puncta resulting in secondary photophobia, blepharitis and corneal opacities. The hands and feet showed absent digits, symphalangism and displacement of bone consistent with ectrodactyly. In addition, the patient had extensive comedone naevus, a feature not previously reported in EEC syndrome. We stress that the dysplastic ectodermal features of EEC syndrome are not typical of either hidrotic or anhidrotic ectodermal dysplasia but fall into a class of their own. Clefting of the lip and palate were absent due, it is postulated, to the variable expressivity of EEC syndrome.

Adult↗