[Prolonged fever in infants caused by anhydrotic ectodermal dysplasia].
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Child↗
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Results for “ECTODERMAL DYSPLASIA”
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Major hereditary ectodermal dysplasia.
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Ectoderm↗
New form of hidrotic ectodermal dysplasia in a Lebanese family.
We report a sister and brother born to consanguineous parents presenting with severe hypodontia, fine hair, and onychodysplasia. Five other relatives are similarly affected. The comparison with other ectodermal dysplasias is presented and discussed. The possibility of a new autosomal recessive form of ectodermal dysplasia is raised.
Adult↗
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.
A crucial issue in genetic counseling is the recognition of nonallelic genetic heterogeneity. Hypohidrotic (anhidrotic) ectodermal dysplasia (HED), a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands, is usually inherited as an X-linked recessive trait mapped to the X-linked ectodermal dysplasia locus, EDA, at Xq12-q13.1. The existence of an autosomal recessive form of the disorder had been proposed but subsequently had been challenged by the hypothesis that the phenotype of severely affected daughters born to unaffected mothers in these rare families may be due to marked skewing of X inactivation. Five families with possible autosomal recessive HED have been identified, on the basis of the presence of severely affected females and unaffected parents in single sibships and in highly consanguineous families with multiple affected family members. The disorder was excluded from the EDA locus by the lack of its cosegregation with polymorphic markers flanking the EDA locus in three of five families. No mutations of the EDA gene were detected by SSCP analysis in the two families not excluded by haplotype analysis. The appearance of affected males and females in autosomal recessive HED was clinically indistinguishable from that seen in males with X-linked HED. The findings of equally affected males and females in single sibships, as well as the presence of consanguinity, support an autosomal recessive mode of inheritance. The fact that phenotypically identical types of HED can be caused by mutations at both X-linked and autosomal loci is analogous to the situation in the mouse, where indistinguishable phenotypes are produced by mutations at both X-linked (Tabby) and autosomal loci (crinkled and downless).
Adolescent↗
Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred.
Five members of a four-generation Mauritian family with ectrodactyly (split-hand/split-foot deformity) and ectodermal dysplasia but without clefting of the lip or palate have been investigated. The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia manifested as hypotrichosis and abnormal dentition. Distinction is drawn between this autosomal dominant condition and the classical EEC syndrome; independent syndromic status is proposed.
Child, Preschool↗
Hydrotic ectodermal dysplasia--Clouston's family revisited.
Several families segregating for hydrotic ectodermal dysplasia are described, including the later generations of a family originally reported by Clouston (1929). No deviations from an autosomal dominant pattern of inheritance were found.
Ectodermal Dysplasia↗
Hypohidrotic ectodermal dysplasia, central nervous system malformation, and distinct facial features: confirmation of a distinct entity?
Internal hydrocephalus with partial hypoplasia of the cerebellum was observed in a severely mentally retarded boy who showed signs of ectodermal dysplasia. Diagnostic considerations are discussed. Reports of the triad mental retardation-CNS malformation-ectodermal dysplasia are rare. In 1989 we reported a case with these signs that shows a striking facial similarity to the case presented here.
Brain↗
[The tricho-onychotic subgroup of the hidrotic ectodermal dysplasia (HED) (author's transl)].
4 families suffering from hidrotic ectodermal dysplasia (HED) are reported. They belong to the tricho-onychotic subgroup, type Clouston. The trichologic investigations showed a disturbance of the cuticular pattern, being a constant feature of this HED-subgroup.
Adult↗
Calcification of basal ganglia and cerebellar roof nuclei in mentally defective patient with hidrotic ectodermal dysplasia. Analysis of intracranial concretions by electon microprobe.
This report describes, for the first time, an analysis by electron microprobe of concretions in the brain of an individual with striopallidodentate calcification. We also report the unique association of this intracranial syndrome with hidrotic ectodermal dysplasia. An institutionalized male with impaired intellectual function and hidrotic ectodermal dysplasia was known since the age of 3 years to have bilateral radiopaque densities in the region of the basal ganglia on skull roentgenogram. He died at age 29 in congestive heart failure from rheumatic pancarditis. At autopsy, concretions were identified in globus pallidus, caudate nuclei, thalamus, and dentate nuclei. Mineral deposits within the brain, analyzed by energy dispersive x-ray microanalysis, consisted predominately of calcium and phosphorus. Trace amounts of magnesium, iron, and silicon also were detected.
Adult↗
Apocrine hidrocystomas of the lids, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy. A new variant of ectodermal dysplasia.
A fourth case of a newly recognized variant of ectodermal dysplasia is reported. This syndrome is characterized by bilateral apocrine hidrocystomas of the eyelid margins, hypodontia, palmar-plantar hyperkeratosis, and onychodystrophy. To our knowledge, this syndrome, with its striking ocular manifestations, has not been previously documented in the ophthalmic literature.
Aged↗
[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↗
Bilateral sequential lung transplant for ectodermal dysplasia.
A case of bilateral sequential lung transplantation for anhidrotic ectodermal dysplasia is presented. The patient was a 16-year-old male with end-stage lung disease secondary to chronic severe respiratory infection. Although a relatively rare disease, the common association of fatal pulmonary compromise in those affected with this disorder warrants consideration of lung transplantation as a viable therapeutic option.
Adolescent↗
Hypohidrotic ectodermal dysplasia with bilateral impacted teeth at the coronoid process: a case rehabilitated with mini dental implants.
Bilateral migration of teeth into the coronoid process in a patient with ectodermal dysplasia has not been reported in the literature except one report in which severe hypodontia and bilaterally ectopic impacted teeth in the coronoid processes of a nonsyndromic patient occurred. This article presents a 15-year-old female with hypohidrotic ectodermal dysplasia who had surgical removal of bilaterally impacted teeth in the coronoid process and was rehabilitated with a dental implant-retained fixed prosthesis in the mandible and over-denture in the maxilla.
Adolescent↗
Overdenture prosthesis for oral rehabilitation of hypohidrotic ectodermal dysplasia: a case report.
The dentition of a patient with ectodermal dysplasia was restored with a modified hollowed maxillary overdenture opposing a conventional mandibular overdenture. Lingualized occlusion was used because it was the ideal occlusal scheme for this patient to achieve denture stability. The lingual cusps of the maxillary posterior teeth contacted the fossae of the mandibular teeth to create freedom of movement and to prevent lateral interference.
Child, Preschool↗
Cellular immunodeficiency in anhidrotic ectodermal dysplasia.
By using in vitro methods of patients with anhidrotic ectodermal dysplasia (AED) was shown to have depressed lymphocyte function when compared with a control group. IgE levels of the AED group were elevated above those of a control group at the p=0.01 level of significance. In vivo methods utilizing the application of DNCB demonstrated, in addition, decreased delayed hypersensitivity reactions in the anhidrotic patients. Thus there appears to be some degree of cellular immune hypofunction in patients with AED, all of whom have demonstrated at some time a lichenified dermatitis clinically indistinguishable from atopic dermatitis.
Antibody Formation↗
Orthodontic and prosthodontic treatment of ectodermal dysplasia--a case report.
In addition to its other symptoms, ectodermal dysplasia causes anodontia and hypodontia intraorally. Partial or total anodontia results in some loss of function, such as chewing, and affects aesthetics. Prosthodontic rehabilitation can be accomplished with fixed, overdenture, complete, or implant-retained prostheses. For rehabilitation, it is crucial to know the age, number and condition of present teeth, and the state of growth of the patient. A 10-year-old male patient who visited our clinic was treated by a multi-disciplinary team of surgeons, orthodontists, and prosthodontists. An overdenture was planned, and an implant-supported prosthesis was considered for when the patient had finished growing. A clasp retained over the denture was planned for prosthetic rehabilitation after considering his growth and the number and condition of his present teeth.
Anodontia↗
The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q.
Hidrotic ectodermal dysplasia (HED), Clouston type, is an autosomal dominant skin disorder which is most common in the French-Canadian population and is characterized by hair defects, nail dystrophy and palmoplantar hyperkeratosis. Biophysical and biochemical studies conducted in HED suggested a molecular abnormality of keratins. We tested eight French-Canadian families segregating HED for linkage to microsatellite markers flanking the known keratin genes and were able to exclude linkage to these loci. Therefore, a genome-wide search for the HED gene was initiated. The first lod score above 3.00 was obtained with the marker D13S175 located in the pericentromeric region of chromosome 13q (Zmax = 8.12 at zero recombination). The cumulative lod scores were above 3.00 for six other markers in the region. A multipoint linkage analysis using the markers D13S175, D13S141 and D13S143 gave a maximum lod score of 11.12 at D13S141 with the one-lod-unit support interval spanning a 12.7 cM region which includes D13S175 and D13S141. Haplotype analysis allowed us to establish D13S143 as the telomeric flanking marker for the HED candidate region.
Centromere↗
Impaired dendritic-cell function in ectodermal dysplasia with immune deficiency is linked to defective NEMO ubiquitination.
Ectodermal dysplasia with immune deficiency (EDI) is caused by alterations in NEMO (nuclear factor [NF]-kappaB essential modulator). Most genetic mutations are located in exon 10 and affect the C-terminal zinc finger domain. However, the biochemical mechanism by which they cause immune dysfunction remains undetermined. In this report, we investigated the effect of a cysteine-to-arginine mutation (C417R) found in the NEMO zinc finger domain on dendritic cell (DC) function. Following CD40 stimulation of DCs prepared from 2 unrelated patients with the NEMO C417R mutation, we found NEMO ubiquitination was absent, and this was associated with preserved RelA but absent c-Rel activity. As a consequence, CD40 stimulated EDI DCs failed to synthesize the c-Rel-dependent cytokine interleukin-12, had impaired up-regulation of costimulatory molecules, and failed to support allogeneic lymphocyte proliferation in vitro. In contrast, EDI DCs stimulated with the TLR4 ligand lipopolysaccharide (LPS) showed normal downstream NF-kappaB activity, DC maturation, and NEMO ubiquitination. These findings show for the first time how mutations in the zinc finger domain of NEMO can lead to pathway specific defects in NEMO ubiquitination and thus immune deficiency.
Arginine↗