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Results for “Ectodermal dysplasia”

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At least 19 recordsLinked to original sources
PubMed1979

[Association of ectodermal dysplasia, cleft of the lip palate and "scrubbing-brush hair". Its situation in "D. E. F. syndromes" (ectodermal dysplasia, cleft of the lip and/or palate (author's transl)].

The "D. E. F.-syndromes" consist of ectodermal dysplasia, cleft of the lip and/or palate (fente labiale et/ou palatine). This group includes the A. E. C.- and the E. E. C.-syndromes. We are reporting two cases of D. E. F.-syndrome, in which there was a very particular hair dysplasia, which we named "scrubbing-brush hair". The first case was a boy. The disease was probably transmitted on the dominant autosomal mode. The ectodermal dysplasia was of hypohidrotic type. The second case was also observed in a boy. There was no similar genetic abnormality in the family. The ectodermal dysplasia was of hidrotic types. The embryological findings account for the association between the ectodermal dysplasia and the medial dysraphia of the face.

Abnormalities, Multiple↗
PubMed1979

Anhidrotic ectodermal dysplasia with lacrimal anomalies.

Ectodermal dysplasia and its related disorders may present with ocular symptoms due to involvement of the ectodermal components of the eye. This paper reports a case of congenital anhidrotic ectodermal dysplasia presenting to the ophthalmologist with epiphora due to lacrimal atresia. The embryonic origin of the lacrimal system suggests that lacrimal anomalies in association with ectodermal disorders are commoner than reports indicate. Their management consists in accurate evaluation of the anomaly followed by surgery.

Child↗
PubMed1978

Impairment of cell-mediated immunity in ectodermal dysplasia with aplastic anemia.

A case of ectodermal dysplasia and aplastic anemia is presented in which a cell-mediated immunodeficiency led to a fatal Pneumocystis carinii infection. Elevated levels of IgG, IgA and IgD were present with normal specific antibody titres. A deficient cell-mediated immunity was documented by low T cell numbers, poor in vitro mitogenic responses, negative skin tests and by the histologic finding at autopsy of thymic dysplasia.

Anemia, Aplastic↗
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↗
PubMed1977

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↗
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↗
PubMed1975

The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet.

Syndromes of human congenital malformation may be classified be recognizing communities of syndromes that share multiple phenotypic similarities involving their principal diagnostic features. A community of syndromes that shares various expressions of ectodermal dysplasia and various deformities of the hands and feet is proposed; these syndromes are divisible into two classes according to the presence or absence of anomalies in the nasal or labial regions of the face. The dysmorphogenetic validity of the division is supported by the fact that the syndromes without nasal or labial anomalies have a high frequency of sensorineural deafness as one expression of ectodermal dysplasia whereas those without such anomalies do not. The usefulness of such a syndromal community as a base for evolving a taxonomic scheme of dysmorphogenetic relatedness amongst different syndromes is illustrated.

Abnormalities, Multiple↗
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↗
PubMed1979

X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it seems highly probable that the AED locus is nearer to the centromere than is the G6PD locus.

Blood Group Antigens↗
PubMed1978

[EEC syndrome: ectrodactyly, ectodermal dysplasia and cleft lip-palate (author's transl)].

Authors present a new and complete from of EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip-palate), analysing its' clinical, genetic and therapeutic aspects. Syndrome malformations involving mainly mesenchymal tissue and with diverse clinical expression suggest a heterogenetic heredity. Participation of environmental and unknown factors is not excluded.

Cleft Palate↗
PubMed1976

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple↗