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At least 19 recordsLinked to original sources
PubMed2004

Ectodermal dysplasias.

Ectodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic). The ectodermal dysplasias, as a rule, are not pure "one-layer diseases." Mesodermal and, rarely, endodermal dysplasias coexist. Embryogenesis exhibits distinct tissue organizational fields and specific interactions among the germ layers that may lead to a wide range of ectodermal dysplasias when genes important for development are mutated or otherwise altered in expression. Of the approximately 200 different ectodermal dysplasias, about 30 have been studied at the molecular level with identification of the causative gene. Freire-Maia and Pinheiro used the clinical aspects for their classification, and Priolo integrated molecular genetic and clinical aspects for her scheme. Those two more historical classification schemes have the difficulty that, when applied strictly, several additional groups of diseases should be integrated within the term "ectodermal dysplasias," e.g. keratodermas with skin or hair alterations or the ichthyoses with associated features. Such consequent classification would lead to an endless list of diseases and would be useless for the practical work. Recent evidence implicates a genetic defect in different pathways orchestrating ectodermal organogenesis. Modern molecular genetics will increasingly elucidate the basic defects of the different syndromes and yield more insight into the regulatory mechanisms of embryology. In this way, a reclassification of ectodermal dysplasias will be possible according to the function of their involved mutated genes. Lamartine recently proposed a helpful classification according to the functions of the genes discovered in different types of ectodermal dysplasias. Accordingly, the present overview categorizes the various ectodermal dysplasias into four major functional subgroups: cell-cell communication and signaling, adhesion, transcription regulation, and development.

Cell Adhesion↗
PubMed2002

[Hypohidrotic ectodermal dysplasias].

Ectodermal dysplasias form a heterogeneous group of hereditary diseases associating dysplastic abnormalities of four tissues which derive from the ectoderm. The frequency of these congenital diseases is estimated at 7 out of 100,000 newborns. More than 150 different syndromes have been described. Solomon and Keuer, then Freire Maya and Pinheiro established a classification of these diseases dividing them in 6 groups depending on the presence of the four main clinical disorders: trichodysplasia, onychodysplasia, hypodontia and hypohidrosis. We focus on the fundamental clinical features of the hypohidrotic ectodermal dysplasias and propose an overview of the most frequent forms based on a review of the literature.

Adult↗
PubMed1991

Pili torti and onychodysplasia. Report of a previously undescribed hidrotic ectodermal dysplasia.

Ectodermal dysplasias are a large and heterogeneous groups of clinically and genetically distinct syndromes. We studied a family suffering from dystrophies of the distal part of the nails and trichodysplasia. Scalp, beard, pubic and axillary hair were broken off leaving a stubble 1-10 mm in length. Eyebrows, eyelashes and body hair were completely absent. Serum levels of copper and plasma levels of amino acids were within the normal range. Inheritance was autosomal recessive. Previous reports of ectodermal dysplasias and other complex syndromes with pili torti are reviewed.

Abnormalities, Multiple↗
PubMed2007

Homeobox gene Dlx3 is regulated by p63 during ectoderm development: relevance in the pathogenesis of ectodermal dysplasias.

Ectodermal dysplasias (EDs) are a group of human pathological conditions characterized by anomalies in organs derived from epithelial-mesenchymal interactions during development. Dlx3 and p63 act as part of the transcriptional regulatory pathways relevant in ectoderm derivatives, and autosomal mutations in either of these genes are associated with human EDs. However, the functional relationship between both proteins is unknown. Here, we demonstrate that Dlx3 is a downstream target of p63. Moreover, we show that transcription of Dlx3 is abrogated by mutations in the sterile alpha-motif (SAM) domain of p63 that are associated with ankyloblepharon-ectodermal dysplasia-clefting (AEC) dysplasias, but not by mutations found in ectrodactylyectodermal dysplasia-cleft lip/palate (EEC), Limb-mammary syndrome (LMS) and split hand-foot malformation (SHFM) dysplasias. Our results unravel aspects of the transcriptional cascade of events that contribute to ectoderm development and pathogenesis associated with p63 mutations.

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

Special children, special needs: the ectodermal dysplasias.

Ectodermal dysplasias are a group of genetic disorders that arise from abnormalities of the ectoderm. Children with the disorder exhibit a wide range of clinical features that frequently affect the skin, teeth, hair, and sweat glands. With early detection and careful management, these children can lead normal, productive lives.

Child↗
PubMed2002

Analysis of craniofacial development in children with hypohidrotic ectodermal dysplasia.

Ectodermal dysplasias (ED) are a heterogeneous group of inheritable disorders characterized by abnormal development of embryologic ectoderm derivatives. The purposes of this study were to: 1) create baseline cephalometric norms for male children with ED; 2) assess craniofacial growth and development in hypohidrotic ED male children with severe hypodontia, compared with non-ED children with class I dental relationships; 3) compare the craniofacial morphology of titanium dental implant-treated ED males with non-implant-treated ED males; and 4) correlate the severity of hypodontia to craniofacial dysmorphology. Cephalometric radiographs of class I individuals and implant-treated and nontreated ED groups were used to evaluate craniofacial morphology. Traditional cephalometric landmarks and measurements were used to compare groups using the generalized estimate equation analysis. Age, gender, and the number of permanent maxillary teeth present had a significant (P =.01) explanatory relationship with the craniofacial measures when comparing untreated ED children to norms. Mean craniofacial differences between ED and non-ED children still existed when the explanatory effects of these variables were controlled, indicating dysmorphology in several craniofacial structures (e.g., cranial base, mandibular length). The number of missing maxillary permanent teeth was significantly related with craniofacial dysmorphology in the ED population. Craniofacial morphology did not differ significantly between implant-treated and nontreated ED children, suggesting that treatment with intraosseous dental implants, as applied in this population, did not rescue normal craniofacial growth and development.

Adolescent↗
PubMedDate not supplied

Prosthetic rehabilitation of individuals with ectodermal dysplasia.

Ectodermal dysplasia is a genetic disorder commonly affecting the development of teeth. The quality of life of the affected individuals can be improved by a multidisciplinary approach to the treatment plan. The treatment may include removable, fixed, implant-supported prostheses, or a combination of these options. This case report describes in detail the diagnosis and treatment of two such individuals using removable overdentures.

Adult↗
PubMed2003

Towards a new classification of ectodermal dysplasias.

Ectodermal dysplasias (EDs) constitute a large and complex group of diseases characterized by various defects in hair, nails, teeth and sweat glands. Of the 170 EDs described so far, fewer than 30 have been explained at the molecular level with identification of the causative gene. This review proposes a new classification of EDs based on the function of the protein encoded by the mutated gene. The EDs are reviewed in light of the recent molecular and biochemical findings and an attempt is made to classify ED causative genes into four major functional subgroups: cell-cell communication and signalling; adhesion; transcription regulation; and development.

Cell Adhesion↗
PubMed2003

Salivary gland function in persons with ectodermal dysplasias.

Ectodermal dysplasias (EDs) constitute a group of conditions comprising developmental defects in two or more of the following tissues: hair, teeth, nails, and sweat glands. The aim of the present study was to contribute to a better understanding of salivary gland involvement in EDs. An ED group (n = 39, median age 12 yr; 24 males, 15 females) and a healthy age- and sex-matched control group were studied. Citric acid stimulated submandibular and parotid salivary flow rates and salivary concentrations, and output of total protein, acidic proline-rich proteins and histatins were analysed. The associations between quantitative and qualitative salivary parameters were also studied. In the ED group, 13 persons (33%) demonstrated a significantly reduced secretion of submandibular and/or parotid saliva, in addition to a low unstimulated and/or chewing-stimulated whole salivary flow. In the ED group as a whole, a reduced median secretory rate of submandibular saliva was found, whereas the median concentrations of some protein parameters were increased. However, the overall output of proteins was normal or reduced. Submandibular glands seemed to be more affected than parotid glands in EDs. In conclusion, salivary secretory tests are recommended in persons with known or suspected EDs.

Adolescent↗
PubMed1975

Otodental dysplasia: a "new" ectodermal dysplasia.

Otodental dysplasia is an ectodermal dysplasia characterized by abnormal crown morphology of the teeth and sensorineural hearing loss. It was documented in six generations of a kindred of Italian extraction. Thirty-three of the 119 examined family members were affected. Twenty-six persons had characteristic dental anomalies combined with a hearing loss. Two had the dental anomalies alone, four had a hearing loss only and one of those with dental anomalies could not be tested for hearing. The teeth of the 29 with dental anomalies had large, bulbous crowns. The normal relationship between cusps and grooves was obliterated. Molars, both deciduous and permanent, were involved. Deciduous canines were large and bulbous. Absence of premolars was documented in 14 of the 29 individuals with abnormal teeth. Those premolars which were present were frequently small. Radiographs of the teeth showed denticles and taurodontia. Twenty-six of the 30 individuals with a hearing loss had concomitant dental anomalies. Of the four with isolated hearing loss, one was proven to have the syndrome. The remaining three were conjectured to be affected. The age of onset of the hearing deficit ranged from early childhood to middle age. The results of a chi-square test supported autosomal dominant inheritance. The pleiotropy in this syndrome is postualed to be due to a genetic defect in the neuroectoderm.

Adolescent↗
PubMed1997

Family with "pure" hair-nail ectodermal dysplasia.

"Pure" ectodermal dysplasias are developmental disorders affecting only tissues of ectodermal origin. Two different pure ectodermal dysplasias involving only hair and nails have been described to date. Here we describe congenital nail dystrophy and hypotrichosis associated with folliculitis decalvans in a family suggesting autosomal-dominant transmission. This report documents peculiar clinical and ultrastructural hair findings that fit poorly into previously described conditions. Thus the reported patients could represent a new type of pure ectodermal dysplasia.

Adult↗
PubMed2005

Ectoderm-targeted overexpression of the glucocorticoid receptor induces hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia is a human syndrome defined by maldevelopment of one or more ectodermal-derived tissues, including the epidermis and cutaneous appendices, teeth, and exocrine glands. The molecular bases of this pathology converge in a dysfunction of the transcription factor nuclear factor of the kappa-enhancer in B cells (NF-kappaB), which is essential to epithelial homeostasis and development. A number of mouse models bearing disruptions in NF-kappaB signaling have been reported to manifest defects in ectodermal derivatives. In ectoderm-targeted transgenic mice overexpressing the glucocorticoid receptor (GR) [keratin 5 (K5)-GR mice], the NF-kappaB activity is greatly decreased due to functional antagonism between GR and NF-kappaB. Here, we report that K5-GR mice exhibit multiple epithelial defects in hair follicle, tooth, and palate development. Additionally, these mice lack Meibomian glands and display underdeveloped sweat and preputial glands. These phenotypic features appear to be mediated specifically by ligand-activated GR because the synthetic analog dexamethasone induced similar defects in epithelial morphogenesis, including odontogenesis, in wild-type mice. We have focused on tooth development in K5-GR mice and found that an inhibitor of steroid synthesis partially reversed the abnormal phenotype. Immunostaining revealed reduced expression of the inhibitor of kappaB kinase subunits, IKKalpha and IKKgamma, and diminished p65 protein levels in K5-GR embryonic tooth, resulting in a significantly reduced kappaB-binding activity. Remarkably, altered NF-kappaB activity elicited by GR overexpression correlated with a dramatic decrease in the protein levels of DeltaNp63 in tooth epithelia without affecting Akt, BMP4, or Foxo3a. Given that many of the 170 clinically distinct ectodermal dysplasia syndromes still remain without cognate genes, deciphering the molecular mechanisms of this mouse model with epithelial NF-kappaB and p63 dysfunction may provide important clues to understanding the basis of other ectodermal dysplasia syndromes.

Abnormalities, Multiple↗
PubMed2004

A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.

Hypohidrotic ectodermal dysplasia (HED) is found worldwide with an estimated incidence of 1 per 100,000 births. X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is the most common form of the ectodermal dysplasias (ED), a rare group of hereditary diseases characterized by abnormal development of eccrine sweat glands, hair, and teeth. Heterozygous carriers of XLHED often manifest minor or moderate degrees of hypotrichosis, hypodontia, and hypohidrosis. ED1, the gene for XLHED encodes ectodysplasin A, which is a new member of the tumour necrosis factor family. The majority of mutations in XLHED are missense mutations, but one-fifth are insertion/deletions. Here we report a novel 7-bp deletion mutation (nt1242-1248) in exon 9 of the ED1 gene that results in a frameshift and premature stop codon (PTC + 38 amino acids). Mutation analysis in families with XLHED allows for genetic counselling, prenatal diagnosis and confirmation of carrier status.

Adult↗
PubMed2004

Alternative rehabilitation treatment for a patient with ectodermal dysplasia.

The ectodermal dysplasia constitutes a group of hereditary disorders whose clinical manifestations can be defects in ectodermal structures. The hypohidrotic and anihidrotic are commonly types of ectodermal dysplasia. The main characteristics are dental anomalies, hypotrichosis and hypohidrosis. The oral rehabilitation of this patients is important for better social living, self esteem and oral function. This paper had as objective to relate and discuss a case of anihidrotic ectodermal dysplasia, describing the positive influence of an alternative rehabilitation treatment.

Anodontia↗
PubMed2006

Dental findings in patients with ectodermal dysplasia.

BACKGROUND: Ectodermal dysplasia is an inherited disease causing malformations of all tissues originating from the ectoderm. The significance of this disease lies in severe hypodontia, and an accompanying hypoplasia of the alveolar process. The clinical situation is aggravated by a significant xerostomia. It was the aim of this study to document the distribution of hypodontia and tooth malformation. Furthermore, we aimed to elucidate the clinical impact of these findings. PATIENTS AND METHODS: Records of 30 patients (19 males, 11 females) suffering from ectodermal dysplasia were included. Their age ranged between 7 and 23 years. All patients had been examined clinically and radiographically. In every patient, a record was made of which teeth were missing or malformed, and which deciduous teeth persisted. Additionally, the entire treatment procedure was assessed. RESULTS: The third molars were missing in all of the patients. The number of aplastic permanent teeth ranged from 2 to 26. The maxillary lateral incisors were most frequently absent, followed by the mandibular central incisors. The most stable teeth were the central incisors of the upper jaw, and the canines and first molars in both jaws. However, the maxillary central incisors and canines were the teeth most affected by malformation. Deciduous canines and second molars were the most often persisting teeth due to agenesis of the maxillary lateral permanent incisors and mandibular second premolars. In two-thirds of the patients, missing teeth were replaced by removable dentures. Half of the patients received orthodontic treatment. CONCLUSIONS: Hypodontia and malformation are almost regular dental characteristics in patients suffering from ectodermal dysplasia. The distribution of absent teeth deviates remarkably from the general population. Treatment requires an interdisciplinary approach including orthodontics, prosthodontics and oral surgery.

Adolescent↗