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At least 1,063 records · Page 59Linked to original sources
PubMed1988

The team approach to the management of ectodermal dysplasias.

1. The medical and dental needs of ED patients require multidisciplinary treatment. Because of the difficulty in identifying centers with genetic and dental services, locating the availability of these services should be undertaken first. 2. A team member for the specialties of genetics, pediatrics, dermatology, opthalmology, otolaryngology, orthodontics, prosthetics, and pediatric/general dentistry must be identified at each center. 3. An individual to act as liaison with other groups must be identified. 4. A team leader must be named; this individual may be the same or different from the specialists, and local teams must be established. 5. A protocol for communication among national and regional centers, identified specialists, and local teams must be established. 6. Each center should attempt to identify specialists in the region interested in participation. 7. Demographics of identified families need to be established. 8. As patient populations are found, the need for new centers can be identified. 9. As groups of the necessary specialists are identified in a need area, the establishment of new centers can begin. 10. A protocol for uniform record keeping and the centralization of the record base should be established. 11. Treatment protocols should be established to allow coordination of treatment and to support the research aspects of the centers. 12. Efforts need to be directed at establishing financial support for treatment not covered by third-party carriers. 13. Lobbying efforts need to be planned to seek changes in existing laws to provide for adjunctive dental care coverage under medical insurance policies. 14. Efforts need to be initiated to seek private and public funding for the centers. Grant preparation needs to be undertaken to seek support for research activities. 15. A protocol for the recording of ectodermal dysplasia information through a central registry, as is done through the Centers for Disease Control (CDC) with other recognized birth defects, is called for.

Ectodermal Dysplasia↗
PubMed1987

Autosomal dominant ectodermal dysplasia.

A three generation family with hypohidrotic ectodermal dysplasia (ED) is presented. Attempts to categorize the disorder in the family as one of the recognized types of ED were unsuccessful. Affected members of the family have mild hypotrichosis, mild hypodontia, and variable degrees of hypohidrosis. Autosomal dominant inheritance is proposed. Scanning electron microscopy on the hair of members of the family is presented. While there is no specific pattern of defects of the hair of affected persons, the cuticular layer is defective and there are longitudinal grooves in the hair shafts.

Child, Preschool↗
PubMedDate not supplied

[Hypohidrotic ectodermal dysplasia].

The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Diagnosed at the age of 2 months.

Ectodermal Dysplasia↗
PubMed1978

[Contribution to familial ectodermal dysplasia].

The frequent occurrence of the clinical picture of ectodermal dysplasia in the family P. is described. The differences between subjects in symptomatology are discussed in detail. The author's experience speaks well for a great variability of the hereditary mode of this disease. Furthermore, advice is given on the detection and regular ambulatory supervision by the stomatologist.

Anodontia↗
PubMed1986

A previously undescribed ectodermal dysplasia of the tricho-odonto-onychial subgroup in a family.

We encountered two family members with a previously undescribed pure ectodermal dysplasia. The propositus exhibited hypotrichosis, hypodontia, focal linear dermal hypoplasia on the tip of her nose, irregular hyperpigmentation on her back, bilateral amastia and athelia, and mild nerve hearing loss. Her mother displayed similar characteristics, except for present, although hypoplastic, areolae and nipples. Both mother and daughter appeared to be clinically euhidrotic. Despite a comprehensive endocrine workup, the only abnormality detected was a suboptimal cortisol response to hypoglycemia in the propositus. Five other family members seemed to be affected. The pattern of inheritance appeared to be autosomal-dominant, with variable penetrance and expressivity.

Abnormalities, Multiple↗
PubMed1987

The ectodermal dysplasias.

In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive. Included is a discussion of some well-documented, as well as some newer, conditions about which there appears to exist enough information to make some decisions concerning their categorization.

Arthrogryposis↗
PubMedDate not supplied

[Neurogenic hypernatremia with adipsia and cerebral malformations in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate syndrome].

An infant with E.E.C. Syndrome (a genetic condition characterized by: Ectrodactyly, Ectodermal dysplasia, Cleft Lip-Palate) and delayed psychomotor development was found to have chronic hypernatremia and absence of thirst. Computerized brain tomography revealed abnormal lateral ventricles, agenesis of corpus callosum, calcified cortex. His plasma Anti Diuretic Hormone (ADH) levels were inappropriately low relative to his high values of plasma osmolality, whereas ADH responsiveness to nonosmotic stimuli was normal. E.E.C. Syndrome in this baby is characterized by: ectrodactyly of the feet, syndactyly of the 3rd and 4th finger of the hands, bilateral cleft lip and cleft palate, bilateral microtia, lacrimal ductular stenosis. To our knowledge, this is the first report of a case of chronic hypernatremia in conjunction with normal ADH stores, congenital abnormalities of brain structures, and E.E.C. syndrome.

Abnormalities, Multiple↗
PubMed1985

[Results and effects of child psychiatric rehabilitation in polymorphic ectodermal dysplasia syndrome].

Since 1929 when ectodermal dysplasia was first mentioned in the literature the syndrome has been described in many case studies and genealogical reports. It has also been the subject of numerous review articles. The present article gives an account of an 8-year old boy who had long been treated under the supposition that he was severely mentally retarded. While he was an inpatient at a psychiatric facility for children and adolescents it became apparent that he had many abilities that had previously gone unnoticed, and it was felt that an intensive treatment program might possibly even lead to full rehabilitation. Upon discharge 3 months later the medical, psychological and social effects of the program were still difficult to pinpoint, but a new phase of development had clearly begun. In the reassessment of this child a totally different type of personality came to light. Because of his outward appearance the boy had till then apparently been regarded as being both somatically and mentally handicapped. The new diagnosis of a primarily somatic disability and a high level of intelligence therefore opened the door to a new developmental process.

Child↗
PubMed1985

[Mucopolysacchariduria in genetic dermatoses: hereditary epidermolysis bullosa, congenital ichthyosis and ectodermal dysplasia].

4 patients suffering from epidermolysis bullosa, 11 persons with genetically determined ichthyosis, as well as 3 cases of x-linked recessive ectodermal dysplasia were investigated with regard to glycosaminoglycane(GAG)uria; the GAG fractions were analysed by means of GAG thin-layer chromatography. All three groups of patients showed increased GAG-uria. The GAG fractions proved to be chondroitin-6-sulphate, chondroitin-4-sulphate, and heparan-sulphate. The pathomechanism of the increased GAG-uria is supposed to be an increased GAG degradation process.

Adult↗
PubMed1977

Properties of extra-embryonic ectoderm isolated from postimplantation mouse embryos.

Extra-embryonic ectoderm isolated from the mouse embryo as late as 81/2 days post coitum can form cells with the morphological characteristics of trophoblast giant cells both in ectopic sites and in vitro. This similarity to the properties of ectoplacental cone tissue provides further support for the postulated common origin of both tissues from the trophectoderm of the blastocyst.

Animals↗
PubMed1976

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↗
PubMed1967

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↗
PubMed1977

[Clouston's ectodermal dysplasia. A case report with biochemical study of keratin].

One familial case of ectodermal dysplasia of the Clouston's type is reported. The clinical picture consisted of hypotrichosis and dysonychia with normal sweating. The disease follows dominant autosomal transmission. Histologically, keratin was slightly abnormal. The biochemical study of keratin of hair and nails showed diminished cysteine.

Child↗
PubMed1980

A case of multiple skeletal anomalies, ectodermal dysplasia, and severe growth and mental retardation.

A 17-year-old female patient presented extreme growth failure, severe microcephaly and developmental delay, and a unique pattern of congenital anomalies, predominantly of the skeleton and the skin. Prominent findings included hidrotic ectodermal dysplasia with virtually complete absence of body hair, ichthyosiform hyperkeratosis of the skin over the lower legs, dysplasia of toenails; small hands and feet with with short fifth fingers and toes complete cutaneous syndactyly between toes 4 and 5; in X-rays, fusion of several vertebral bodies, humero-radial ankylosis, fusion between talus and navicular bone, lunate and triquetral, and proximal fusion between metacarpals 4 and 5; and luxation of the right femoral head. The patient might represent a hitherto undescribed malformation syndrome of unknown etiology.

Abnormalities, Multiple↗