PubMed Health⌕ Search

SEARCH · PubMed Health

Results for “ECTODERMAL DYSPLASIA”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 109 records · Page 6Linked to original sources
PubMed2003

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle.

Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species. Mutations in the ectodysplasin 1 (ED1) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The ED1 gene encodes a signaling molecule of the tumor necrosis factor family that is involved in development of ectodermal appendages. The bovine disorder may serve as an animal model for human ED1.

Animals↗
PubMed1981

Hypohidrotic ectodermal dysplasia with hypothyroidism.

Two brothers with hypohidrotic ectodermal dysplasia were found to have urticaria pigmentosa-like skin pigmentation with increased mast cells and melanin depositions in the dermis. Structural ciliary abnormalities of the respiratory tract were seen, and these may contribute to their severe recurrent chest infections. Primary hypothyroidism occurred in both by 3 years of age and responded to replacement therapy. The abnormalities seen appear to be the result of a common genetic aberration causing a particular sequence of maldevelopments during embryogenesis. This form of hypohidrotic ectodermal dysplasia associated with hypothyroidism gives a unique insight into the potential extent of structural defects of ectodermal dysplasias.

Biopsy↗
PubMed2005

Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.

We describe the findings of anhidrotic/hypohidrotic ectodermal dysplasia in three successive generations of a family. All three women had variable alopecia, anhidrosis, hypodontia and malar hypoplasia. Chromosomal studies revealed a defect of the 2q12 region in all three patients. Previous studies have reported rare cases of autosomal dominant ectodermal dysplasia associated with defects in the 2q11-13 region1. These rare disorders are characterized by common anomalies of at least two elements of the ectoderm and its appendages--namely, the skin, teeth, hair, nails and sweat glands. These patients also frequently have chronic dental problems with early loss of teeth and recurrent lung, ear and nose infections secondary to a defect in mucous membrane function. The majority of reported cases of ectodermal dysplasias have historically been X-linked recessive, but our findings indicate that an autosomal version may be more prevalent than previously thought.

Adult↗
PubMed1988

Cardiomyopathy with arrhythmias and ectodermal dysplasia: a previously unreported association.

Hidrotic ectodermal dysplasia represents a group of congenital or hereditary disorders that involve ectodermal derivatives. It is characterized by partial or complete alopecia, dystrophic nails, and dental abnormalities. Dilated cardiomyopathy has not previously been reported in association with this illness. We report the cases of three children with fatal dilated cardiomyopathy with associated cardiac arrhythmias and ectodermal dysplasia. Laboratory investigations revealed no specific cause for the cardiomyopathy. It is speculated that this association is not simply coincidental.

Arrhythmias, Cardiac↗
PubMed1980

The ectodermal dysplasias. Problems of classification and some newer syndromes.

The ectodermal dysplasias are a heterogeneous group of disorders that, in the past, has included conditions best classified as progeroid disorders. The inaccuracy of the terminology has led to a proliferation of syndromes in which the patients are said to have poorly defined "ectodermal dysplasia," and a real need exists to define that appellation further. We suggest that the term "ectodermal dysplasia" be limited to those disorders that are congenital, are diffusely present, are not progressive, and do involve the epidermis and at least one of the appendages. We recognize that a heterogeneous group of disorders remains that generically have certain similarities. Not enough is known about the defects in each of the elements of the skin affected in these conditions to classify them more accurately. Several recently described disorders appear to have some degree of ectodermal dysplasia.

Abnormalities, Multiple↗
PubMed1984

Dysphagia in hypohidrotic ectodermal dysplasia. A case report.

The congenital ectodermal dysplasias are a rare group of hereditary disorders manifesting with variable defects in structures of ectodermal origin. This report describes a patient with the hypohidrotic form of ectodermal dysplasia who presented with dysphagia and pneumonia. He was shown to have laryngeal incompetence and it is postulated that this may be a mechanism for the recurrent chest infections reported in patients with this condition.

Deglutition Disorders↗
PubMed1995

Review of ectodermal dysplasias for nurses.

The purpose of this continuing education feature is to introduce nurses to a group of disorders called ectodermal dysplasias. The ectodermal dysplasias are genetic disorders that affect individuals from all ethnic groups. Most of the features of ectodermal dysplasias can be evaluated easily and useful information can be given to affected individuals and their families about the disorder and readily available treatment.

Ectodermal Dysplasia↗
PubMed1980

Premature cataracts in a family with hidrotic ectodermal dysplasia.

In a family with hidrotic ectodermal dysplasia affecting five members in three generations, bilateral premature cataracts have developed in four of the five affected individuals. To our knowledge, this represents the first report of a family in which bilateral premature cataracts appear to be inherited with hidrotic ectodermal dysplasia.

Adult↗
PubMed2002

[Hypohidrotic ectodermal dysplasia: A cause of fever of unknown origin].

The term ectodermal dysplasias includes many disorders that share some clinical features such as involvement of one or several ectodermal structures and congenital origin. Currently, 154 different types divided into 11 clinical subgroups (Freire Maia classification 1994) have been described. The most frequent entity is hypo- or anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). This is a rare hereditary disease whose main characteristic is the absence, or more often the reduction, of sweat glands, leading to an increase in body temperature together with anomalies of the epidermis and its appendages (hair and nails). We present a case of hypohidrotic ectodermal dysplasia in a premature 18-month-old boy who was referred to our department because of markedly dry skin since birth and recurrent eczematous and lichenification lesions that had been successfully treated with topical corticosteroids. Physical examination revealed mild alopecia with sparse and fine blonde hair and the absence of dental alveoli. The boy's mother had noticed slight sweating and episodes of fever without clinical symptoms, which were more frequent in summer. Hypohidrotic ectodermal dysplasia should be included in the differential diagnosis of fever of unknown origin.

Child, Preschool↗
PubMed2003

Hypohidrotic ectodermal dysplasia: prenatal diagnosis by three-dimensional ultrasonography.

Ectodermal dysplasia is the term used to describe a group of rare congenital anomalies characterized by abnormal development of 1 or several ectoderm-derived tissues. At least 154 different types, divided into 11 clinical subgroups, have been recognized. Among them, the hypohidrotic type is the most common form, with an incidence of 1 per 10,000 to 1 per 100,000 live births. This condition, originally known as anhidrotic ectodermal dysplasia because of the notable reduction of sweat gland function, is clinically characterized by hypohidrosis, hypotrichosis, and hypodontia. Most cases are inherited as an X-linked recessive trait, with the gene responsible being mapped to Xq12-q13.1. The autosomal recessive and dominant patterns of inheritance have also been documented. Prenatal diagnosis of this condition has been reported previously in high-risk pregnancies on the basis of histologic analysis of fetal skin obtained by second-trimester fetoscopy-guided skin biopsy. DNA-based linkage analysis has also made the diagnosis possible with the use of chorionic villi in the first trimester. In this report, we describe noninvasive prenatal diagnosis of hypohidrotic ectodermal dysplasia in a pregnancy at risk for this condition. The diagnosis was achieved by identification of the distinct facial features at 30 weeks' gestation on three-dimensional (3D) ultrasonography.

Adult↗
PubMed1994

Thymic hypoplasia and T-cell deficiency in ectodermal dysplasia: case report and review of the literature.

Ectodermal dysplasia is a heterogeneous disorder that includes a constellation of congenital malformations occasionally associated with mild to moderate immune dysfunction. In this report, we describe a female infant with ectodermal dysplasia who was found to have thymic hypoplasia but no other phenotypic features of the DiGeorge anomalad. She experienced Candida parapsilosis sepsis at 1 week of age and a skin infection with Mycobacterium chelonii at 6 months. The numbers of blood B cells were normal and serum immunoglobulins normal to slightly reduced, but serum antibody responses of all immunoglobulin isotypes to protein immunogens were absent. Blood T cells were profoundly reduced and proliferative responses of T cells to mitogens were blunted. In contrast, there was an increased number of natural killer (NK) cells and increased NK activity in the blood. Over the first year of life, some of the immunodeficiencies resolved. Although the numbers of blood T cells (17% of total lymphocytes) remained low, proliferative responses to mitogens normalized and specific antibody responses improved. It seems likely that the thymic hypoplasia in this case was due to a paucity of ectodermal elements in the developing thymus, and that the immune defects were largely secondary to that event. In that respect, this human model of ectodermal dysplasia and thymic hypoplasia resembled the ectodermal/thymic defects found in the nude mouse.

Cell Line↗
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↗
PubMed2003

[Tooth disorders in ectodermal dysplasias].

Recently, the molecular bases of the most frequent ectodermal dysplasias have been identified; they involve genes responsible for the epithelial morphogenesis, and the regulation of cell survival and proliferation. Teeth alterations with characteristic features are often observed in X-linked anhidrotic ectodermic dysplasia and in autosomic recessive anhidrotic ectoderma, rarely in hidrotic ectodermal dysplasia.

Ectodermal Dysplasia↗
PubMed1991

Osseointegrated implants in the oral habilitation of a boy with ectodermal dysplasia: a case report.

The most characteristic oral feature in ectodermal dysplasia is hypodontia. Children and adolescents suffering from ectodermal dysplasia often need extensive and complicated prosthetic treatment. The development of techniques for osseointegrated implants offers new possibilities for the oral habilitation of these children. This paper describes the oral habilitation of a boy with severe ectodermal dysplasia and where Brånemark osseointegrated implants have been used as part of the treatment. The patient was seen at the dental department at the age of 1.5 years. Two conically-shaped upper incisors were at that time the only teeth that had erupted. The treatment was planned in a multidisciplinary odontological group involving paediatric dentistry, orthodontics, prosthodontics, oral surgery and maxillofacial radiology. At the age of 3 years it was verified that the boy had four primary teeth (53, 51, 61, 63) and four permanent teeth (16, 11, 21, 26). There were no teeth in the lower jaw. The alveolar ridges in the edentulous areas were low or missing. During the period 3-6 years of age the boy used an upper partial denture adapted to allow the mesial drift of the 16 and 26 teeth. At the age of 6 years, two Brånemark implants were inserted in the lower front-cuspid region. A specially designed overdenture for the lower jaw was constructed. The overdenture was retained in contact with the male attachments by two cuffs of heat-polymerized resilient silicone. Over the next 4 years the dentures were modified due to the eruption of permanent teeth and growth. However, only minor corrections were necessary concerning the retention system of the lower denture. The implants are well osseointegrated and stable and allow the boy to use a lower denture without any complications.

Anodontia↗
PubMed1995

Hypohidrotic ectodermal dysplasia: characteristics and treatment.

Hypohidrotic ectodermal dysplasia is a rare congenital disease that affects several ectodermal structures. The disease is usually transmitted as an X-linked recessive trait in which the gene is carried by the female and manifested in the male. Manifestations of the disease differ in severity and may involve teeth, skin, hair, nails, and sweat and sebaceous glands. Most affected children require extensive dental treatment to restore their appearance and help the development of a positive self-image.

Adolescent↗
PubMed2004

Ectodermal dysplasia with tetramelic deficiencies and no mutation in p63: odontotrichomelic syndrome or a new entity?

The ectodermal dysplasias (ED) are a large and complex group of diseases characterized by anomalies of the ectoderm and its derivates, often associated with malformations in other organs. We report a patient with an ectodermal dysplasia affecting hair, teeth, and nails and malformations of all four extremities including absence of several rays in the hands and feet. This patient shares many similarities with odontotrichomelic syndrome, a rare ectodermal dysplasia syndrome that has so far only been described in three individuals. However, some differences exist and this patient might also represent a separate ectodermal dysplasia syndrome. p63, a gene that is mutated in a number of syndromes associated with ectodermal dysplasia and limb malformations, was considered a possible candidate gene. However, no mutation in p63 was identified.

Adult↗
PubMed1984

Xanthoma tendinosum in a normolipemic ectodermal dysplasia patient.

A female patient with congenital ectodermal dysplasia is described, who developed xanthoma tendinosum in her hands simulating rheumatoid arthritis. The serum lipids of this patient were normal. Both ectodermal dysplasia and xanthoma tendinosum in a normolipemic patient are rather uncommon and to our knowledge have not been previously reported in one and the same patient.

Adult↗