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At least 559 records · Page 31Linked to original sources
PubMed2007

Anomalies of tooth formation in hypohidrotic ectodermal dysplasia.

OBJECTIVE: The X-linked hypohidrotic ectodermal dysplasia (HED) is the most common type of ectodermal dysplasia. The clinical identification of possible heterozygous females can be difficult because of the varying degrees of clinical signs caused by X-chromosome inactivation. This study is the first to elaborate on anomalies of tooth formation found in a group of hemizygous males and heterozygous females with known ED1 mutations. These tooth anomalies may be used as dental biomarkers for heterozygous females, enabling an earlier diagnosis, and therefore, better treatment and genetic counselling. METHODS: Anomalies of tooth formation were examined using panoramic radiographs, dental casts and oral photographs in hemizygous males and heterozygous females who were identified by molecular genetic analysis. The results were compared to existing controls and normative data. RESULTS: All affected males had multiple missing permanent teeth and tooth malformations. The heterozygous females had a significantly higher frequency of agenesis of permanent teeth compared to normative data. The heterozygous females had an increased prevalence of tooth malformations and reduced tooth size, especially in the mesiodistal dimension. CONCLUSIONS: We conclude that observed anomalies of tooth formation may be used as dental biomarkers in the clinical identification of potentially heterozygous females.

Adolescent↗
PubMed2004

Clinical and genetic aspects of X-linked ectodermal dysplasia in the dog -- a review including three new spontaneous cases.

This review presents the clinical, dermato-histopathological and genetic features of canine X-linked ectodermal dysplasia in previously reported cases and in three new spontaneous cases. The condition is compared with anhidrotic ectodermal dysplasia in humans and, based on current genetic concepts, we suggest that the two conditions are caused by the same gene and, consequently, represent a single pathological entity that affects both humans and dogs.

Animals↗
PubMed1988

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↗
PubMed1992

Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.

An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155.

Diagnosis, Differential↗
PubMed1993

Normal immunological status in four patients with ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome).

Lobster-claw deformity of the extremities, clefting of the primary and secondary palate, ectodermal dysplasia, and atresia of the lacrimal system are common features of the ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC-syndrome). The patients often suffer from repeated infections of eyes, upper respiratory tract and urogenital system. To exclude an immunodeficiency as cause of the infectious predisposition in patients with EEC-syndrome, we screened the immunosystem in four related patients with EEC-syndrome. All patients were found to present normal immunoglobulin production, complement activity, lymphocyte-, and granulocyte function. We conclude that recurrent infections observed in the EEC-syndrome are not caused by an immunological defect, but seem to result solely from anatomical anomalies.

Abnormalities, Multiple↗
PubMed1993

The expression pattern of the chicken homeobox-containing gene GHox-7 in developing polydactylous limb buds suggests its involvement in apical ectodermal ridge-directed outgrowth of limb mesoderm and in programmed cell death.

The limb buds of the polydactylous mutant embryos, talpid2 and diplopodia-5, possess expanded distal apexes surmounted by prolongated thickened apical ectodermal ridges that promote the outgrowth and formation of digits from both the anterior and posterior mesoderm of the mutant limb buds. The chicken homeobox-containing gene GHox-7 exhibits an expanded domain of expression throughout the expanded subridge mesoderm of the mutant limb buds, providing support for the hypothesis that GHox-7 expression by subridge mesenchymal cells is involved in the outgrowth-promoting effect of the apical ectodermal ridge. During normal limb development GHox-7 is also expressed by the mesoderm in the proximal anterior nonchondrogenic periphery of the limb bud, which includes, but is not limited to the anterior necrotic zone. GHox-7 is also expressed in the posterior necrotic zone at the mid-proximal posterior edge of the limb bud. In contrast, GHox-7 is not expressed in either the proximal anterior or posterior peripheral mesoderm of talpid2 and diplopodia-5 limb buds which lack proximal anterior and posterior necrotic zones. Furthermore, retinoic acid-coated bead implants, which diminish cell death in the anterior necrotic zone, elicit a local inhibition of GHox-7 expression in the proximal anterior peripheral mesoderm. These results support the suggestion that GHox-7 may be involved in defining regions of programmed cell death during limb development. Furthermore, these studies indicate that the distal subridge and proximal anterior nonchondrogenic mesodermal domains of GHox-7 expression are independently regulated.

Animals↗
PubMed2004

Somite development without influence of the surface ectoderm in the chick embryo: the compartments of a somite responsible for distal rib development.

In the development of the somite, signals from neighboring tissues have been suggested to play critical roles. We have found that when interaction between the ectoderm and the somite is blocked by inserting a piece of polyethylene terephatalate film between them in 2-day-chicken embryo, one of the derivatives of somite, the distal rib, did not form. We examined somite development after the operation, to know the correlation between somite development and distal rib formation. In the operated embryo, the dermomyotome was medio-laterally shorter than in the normal embryo, and Pax3 and Sim1 expressions that are seen in the lateral part of normal dermomyotomes were not found, suggesting that the lateral part of the dermomyotome was missing. Although the sclerotome appeared to be normal in its histology and Pax1 expression pattern in the operated embryo, we could not detect the expression of either Scleraxis nor gamma-FBP that are expressed in the cells around the boundaries between the adjacent dermomyotomes in normal embryos. Thus, under the influence of surface ectoderm, the lateral part of dermomyotome and/or the mesenchyme around rostral and caudal edges of dermomyotomes are suggested to play an important role in the distal rib development.

Animals↗
PubMed1986

Acute miliary tuberculosis in a child with anhidrotic ectodermal dysplasia.

A 20-month-old boy with anhidrotic ectodermal dysplasia developed fever and papulopustular skin lesions. A skin biopsy showed the histologic changes of acute miliary tuberculosis. Anhidrotic ectodermal dysplasia is characterized by an absence of seromucous glands in the oropharynx and tracheobronchial tree, making children with this disease prone to viral and bacterial respiratory infections. Mild defects in their immunologic system have also been reported. We suggest that these abnormalities may have predisposed the patient to this rare form of cutaneous tuberculosis.

Ectodermal Dysplasia↗
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↗
PubMed1998

Temporal and spatial expression of erbB4 in ectodermal and mesenchymal cells during primary palatogenesis in noncleft and cleft strains of mice.

Primary palatogenesis in mice is similar to that in humans, and spontaneous cleft lip appears to be multifactorially determined in both. Binding of a ligand to erbB4 has been shown to stimulate the receptor's protein kinase activity, which subsequently stimulates a signal-transduction cascade leading to cell growth and differentiation, and to morphogenesis during development. In this study, an immunohistochemical technique was used to investigate the temporal and spatial expression of erbB4 in the primary palate of cleft (A/WySn) and noncleft strains of mice (BALB/cBy). Positive staining of erbB4 was found in ectodermal and mesenchymal cells of facial prominences before the primary palate formation stage (day 10, hour 20) in both strains. During the primary palate formation stage (day 11, hour 20), positive staining of erbB4 was found in the ectodermal and mesenchymal cells of the facial prominences of the noncleft strain, but not in those of the cleft strain. These results suggest erbB4 expression may be associated with normal primary palatogenesis of mice and, conversely, cleft lip may be associated with a deficiency of erbB4 expression during primary palate formation in mice.

Animals↗
PubMed1998

Salivary gland involvement in hypohidrotic ectodermal dysplasia.

Ectodermal dysplasias (EDs) are a group of developmental disorders (more than 100) mainly affecting ectodermal tissues and organs. The X-linked hypohidrotic ED (HED) is the most common form of EDs, involving defects in teeth, sweat glands, and hair. In a few reports, HED has been associated with reduced salivary function. In the present case report, a dramatically reduced salivary fluid and acidic proline rich protein production was identified in a 38-year-old man with HED. Computed tomography was performed, revealing that one submandibular gland and both parotid glands were hypoplastic, whereas the right submandibular gland seemed to be absent. These findings are in line with a general developmental disturbance also involving the salivary glands. As salivary tests are inexpensive and easy to perform, it is suggested to routinely evaluate salivary secretion in persons with HED, to prevent a possible negative impact on oral health.

Adult↗
PubMedDate not supplied

The use of tricalcium phosphate to preserve alveolar bone in a patient with ectodermal dysplasia: a case report.

The prosthodontic management of the child with ectodermal dysplasia is made difficult because of the under-development of the alveolar ridges. This paper describes a case where tricalcium phosphate was placed in sockets immediately following the extraction of the primary incisor teeth to help maintain alveolar bone width, offering a valuable alternative treatment option in the prosthodontic management of the child patient with ectodermal dysplasia.

Alveolar Bone Loss↗
PubMed1995

Conversion of Xenopus ectoderm into neurons by NeuroD, a basic helix-loop-helix protein.

Basic helix-loop-helix (bHLH) proteins are instrumental in determining cell type during development. A bHLH protein, termed NeuroD, for neurogenic differentiation, has now been identified as a differentiation factor for neurogenesis because (i) it is expressed transiently in a subset of neurons in the central and peripheral nervous systems at the time of their terminal differentiation into mature neurons and (ii) ectopic expression of neuroD in Xenopus embryos causes premature differentiation of neuronal precursors. Furthermore, neuroD can convert presumptive epidermal cells into neurons and also act as a neuronal determination gene. However, unlike another previously identified proneural gene (XASH-3), neuroD seems competent to bypass the normal inhibitory influences that usually prevent neurogenesis in ventral and lateral ectoderm and is capable of converting most of the embryonic ectoderm into neurons. The data suggest that neuroD may participate in the terminal differentiation step during vertebrate neuronal development.

Amino Acid Sequence↗
PubMed1984

Ectodermal dysplasia associated with autoimmune disease.

A case is reported of hereditary ectodermal dysplasia with corneal involvement associated with polyendocrinopathy and pernicious anaemia. The presence of autoantibodies to various endocrine organs and ocular tissues is confirmed. This suggests that ectodermal dysplasia may be an autoimmune disease.

Adult↗
PubMed1981

Ectodermal dysplasia in females and inversion of chromosome 9.

Absence of sweat glands, hypotrichosis, hypodontia, characteristic facial features, and intolerance to heat, without dystrophia of the nails, are manifestations of sex linked hypohydrotic ectodermal dysplasia. Three males and two females were affected in a family in which the affected females were also carrying a pericentric inversion of chromosome 9. Those phenotypically normal females in this pedigree who were obligate carriers had normal karyotypes. One of the affected females (the proband) had, in addition, primary amenorrhoea, absence of the mammary glands, and rudimentary internal genitalia. The fact that clinical manifestations of ectodermal dysplasia in the carrier females of this family are only observed in those also carrying a pericentric inversion of chromosome 9 in peripheral blood leucocytes perhaps suggests that non-random inactivation of the paternal X chromosome has occurred as a consequence of the inversion.

Adolescent↗
PubMed2005

Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome).

BACKGROUND: EEM syndrome is the rare association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. METHODS: We here demonstrate through molecular analysis that EEM is caused by distinct homozygous CDH3 mutations in two previously published families. RESULTS: In family 1, a missense mutation (c.965A-->T) causes a change of amino acid 322 from asparagine to isoleucine; this amino acid is located in a highly conserved motif likely to affect Ca2+ binding affecting specificity of the cell-cell binding function. In family 2, a homozygous frameshift deletion (c.829delG) introduces a truncated fusion protein with a premature stop codon at amino acid residue 295, expected to cause a non-functional protein lacking both its intracellular and membrane spanning domains and its extracellular cadherin repeats 3-5. Our mouse in situ expression data demonstrate that Cdh3 is expressed in the apical ectodermal ridge from E10.5 to E12.5, and later in the interdigital mesenchyme, a pattern compatible with the EEM phenotype. Furthermore, we discuss possible explanations for the phenotypic differences between EEM and congenital hypotrichosis with juvenile macular dystrophy (HJMD), which is also caused by CDH3 mutations. CONCLUSIONS: In summary, we have ascertained a third gene associated with ectrodactyly and have demonstrated a hitherto unrecognised role of CDH3 in shaping the human hand.

Adult↗
PubMed1990

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing the carrier state in this condition and the possibility of non-allelic heterogeneity are discussed.

Chromosome Mapping↗