SEARCH · Search PubMed
Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.
Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.
A case report of Hypohidrotic Ectodermal Dysplasia is presented. The oro-facial features are described together with the dental management of the condition. Children who have this condition should be treated early for their prosthodontic needs to aid mastication and appearance. Continued review and replacement of dentures provided should be instituted for the growing child.
This study anhidrotic ectodermal dysplasia in quadruplets, allows the authors to recall the principal signs of this affliction, which are anhidrosis, or hypohidrosis, hypotrichosis and anodontia or hypodontia.
Authors describe a case of Hypohidrotic Ectodermal Dysplasia in a female carrier. This report give rise to a review of the clinical spectrum of the syndrome. An appraisal of diagnostic methods, associate abnormalities and mode of inheritance is detailed.
The authors report three cases of anidrotic ectodermal dysplasia with an X-linked form. Two cases are sporadic forms, followed up during ten years; the third case is a familial form followed-up through six generations. With their personal cases, the authors insist on the repercussions in the everyday life; they report the signs which must search for an heterozygosis among the females of this families: hypoidrosis, hypodontia, hair shaft abnormalities under polarized light, special look of the face of those females who are alike sometimes wonderfully.
The purpose of this report is to describe a familial observation of EEC syndrome (ectrodactyly, ectodermal dysplasia, cleft palate). The two cases, a boy and his mother, had no cleft palate but the teeth malformations were typical of this affection. The variability of the syndrome is discussed.
We report on a case of " uncombable hair syndrome" combined with additional hair changes ( peripilar casts), periodic shedding of nails, abnormality of teeth, dysplasia of the nipples , Morbus Scheuermann, and atopic disorders with specific IgE sensibilisation . Pili trianguli et canaliculi as well as peripilar casts were electron-microscopically examined. The presented case might be interpreted as a special tricho-odonto- onychial subtype of ectodermal dysplasia.
Fragments of quail wing bud containing myogenic cells of somitic origin and fragments of quail sphlanchopleural tissue were introduced into the interior of the wing bud of fowl embryo hosts. No movement of graft into host tissue occurred in the control, but myogenic cells from the quail wing bud fragments underwent long migrations in an apical direction to become incorporated in the developing musculature of the host. When the apical ectodermal ridge (AER), together with some subridge mesenchyme, was removed at the time of grafting, no such cell migration occurred. The capacity of grafted myogenic cells to migrate in the presence of AER persists to H.H. stage 25, when myogenesis has begun, but premyogenic cells in the somites, which normally migrate out into the early limb bud, do not migrate when somite fragments are grafted into the wing bud. Coelomic grafts of apical and proximal wing fragments showed that apical sections of quail wing buds become invaded by myogenic cells of the host, but grafts from proximal wing bud regions do not.
The development of ectoderm isolated from the animal pole of axolotl gastrulae is monitored by light microscopy, electron microscopy and analysis of newly synthesized proteins, glycoproteins and glycolipids. When control embryos are undergoing neurulation it is shown that the explants autonomously begin to express epidermal markers and do not express mesodermal markers. However the results suggest that not all the cells become epidermal and electron microscope examination shows that only the outer layer does so, the inner cells remaining undifferentiated.
An attempt was undertaken to determine the chemical nature of the neuralizing and lens-inducing effect of the retina and brain extracts from 7-8 day old chick embryos. These extracts were treated with immobilized enzymes (RNAse, proteinase K) and the effect of treatment was then estimated in the organ cultures (reacting tissue - early gastrula ectoderm). The effect of the enzymes was studied in different experimental variants which allowed to exclude the effect of the own proteases and temperature on the inducing activity of the extracts under study. The neuralizing activity of the retinal extract was shown to preserve after its treatment with RNAse but to be almost fully lost (or decrease) after proteolytic hydrolysis. Proteinase suppressed as well completely the lens-inducing effect of the extract from the chick embryo brain. A conclusion is drawn that the inducing activity of the extracts under study is due to proteins, rather than to RNA.
The authors report the case of a 40-year-old man who has presented for many years an intermittent progressive spastic paraplegia. Plain films of the spine show very important dysraphic abnormalities of the inferior dorsal column and the myelography shows a complete block suggesting an intramedullary space-occupying lesion at four levels above the vertebral abnormalities. The operation permits a total removal of an intramedullary "bronchogenic cyst". In the post-operative course, the neurologic deficit improves, six months later a spastic paraparesia remains. The review of the literature shows that this is an exceptional observation. Intramedullary bronchogenic cysts must be regarded as similar to intramedullary enterogenic cysts. They are not teratomas but dysembryoplasiae due to failure of the ento-ectoblastic separation between the second and the third weeks of life. These cysts form a part of the "ento-ectodermal adhesion syndrome" of Prob et al. The preoperative diagnosis is possible on the association of intermittent progressive syndrome of medullary compression and dysraphic spondylotic changes. The total surgical removal of the cyst, by micro-surgical techniques, is able to preserve the neurologic evolution with an excellent result if the operation is performed before definitive neurologic deficits occur.
Data from finger, palmar, and plantar prints of 8 males with X-linked hypohidrotic ectodermal dysplasia(HED), 8 carrier mothers, 7 sisters, and 1 carrier grandmother are compared with data from 552 controls. The patients with HED and the carrier females had higher incidence of arches on the fingertips, of t" triradii, of hypothenar patterns (especially ulnar loops), and of transversal direction of the main lines on the palms than the control individuals did. The affected males were also characterized by severe hypoplasia and/or dysplasia of the dermal ridges ("ridge flattening"); the carrier females also showed ridge flattening and hypoplasia.
Twelve cases of a rare syndrome are reported. Findings included a facial cleft, adactyly of the 2nd and 3rd fingers and 2nd and 3rd toes, and ectodermic dysplasia involving anodontia, hypotrichosis, and albinoid type pigmentation of the skin and the exoskeleton, with clear eyes and chronic conjunctivitis. An interesting finding was that the anodontia affected the permanent teeth only, initially involving the incisors and the second premolars (nine cases out of twelve). Inversely, the deciduous teeth were unaffected, except for the upper first molars in two cases. The canines, usually constantly present, were absent in two out of three cases.
Reported in this paper is a case of shortrib-polydactyly syndrome in a stillborn male infant. The case was identified as Type III (Verma-Naumoff) on account of typical skeletal findings, such as very short ribs, micromelia, postaxial hexadactyly of all extremities, and shortened cranial base, with due consideration being also given, in that context, to characteristic radiographic and histological changes, including metaphysial spurs of long cylindrical bones. Malformations were recorded also from kidneys, ureters, small intestine, and pancreas.--Thin downy head-hair, missing eyebrows, precocious dentition, as well as partial hypoplasia and aplasia of nails were interpreted as signs of ectodermal dysplasia.--Shortrib-polydactyly syndrome is based on autosomal recessive inheritance. Early genetic advice should be offered to parents. Systematic prenatal diagnosis is necessary in case of another pregnancy.
The syndrome ectodermal dysplasia is approached especially from the ENT-specialist's point of view. One case of this rare syndrome is reported and discussed.
An 8-month-old white boy with anhidrotic ectodermal dysplasia (AED) who was referred to the North Carolina Baptist Hospital because of recurrent respiratory infections and hypogammaglobulinemia is presented. His mother had partial expression of AED suggesting x-linked recessive inheritance in this family. She was incidentally given oral glucocorticoids during pregnancy for the treatment of chronic urticaria. The patient's serum immunoglobulins G, A and M were low at 8 months but normal by 15 months of age, and immunologic evaluation failed to show a defect in antibody production or cell-mediated immunity. Although rare, the diagnosis of AED must be considered in infant boys with recurrent fever and respiratory infections. The diagnostic features of the disease may be subtle in young child prior to the eruption of the characteristic peg-shaped teeth.
Transfilter experiments were carried out with competent gastrula ectoderm of Triturus vulgaris and Ambystoma mexicanum as the reacting materials and blastoporal lip, alcohol-treated bone marrow and archenteron roof as the inducing materials, It was shown that a mesodermal inducing substance is able to penetrate Nuclepore filters of different pore sizes (3.0, 1.0, 0.4, 0.2 micrometer). The degree of mesodermal differentiations depends on the reacting materials, the inductors and the filters which were used in the transfilter experiments.
The authors describe a new method for detection of X-linked anhidrotic ectodermal dysplasia cases and carrier females. They used an original organic silicium cream to evaluate sweat pores/cm on fingerprints.
The differentiation of the ectoderm in Ambystoma mexicanum (Harrison stage 26--27) was examined under in vivo and in vitro conditions by scanning electron microscopy under different experimental conditions. About one out of three flank epidermal cells was found to be ciliated in the undistrubed or control embryos. The shape of ciliated cells in the explants from the animal region was only slightly affected. In no case was it possible to find two adjacent ciliated cells, implying that these cells prevent the appearance of cilia in the cells in direct contact. Transformation to ciliated cells is suppressed by hypertonicity but favoured in a hypotonic medium. The differentiation of epidermis is also dependent upon the synthesis of RNA and some kind of sulphated glucosaminoglycan, corroborated by the inhibitory effect of actinomycin and selenate. The differences between the test series and the controls are discussed with regard to factors controlling embryonic epidermal differentiation.