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At least 919 records · Page 51Linked to original sources
PubMed1985

Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia.

For the detection of the carrier state of X-linked hypohidrotic ectodermal dysplasia, sweat pore counts on fingertips or palms have been used in the past. The results obtained, however, were sometimes difficult to interpret. We here describe a more reliable method, using the entire back as a test area. We provide evidence that the distribution of sweat pores in carriers is not simply patchy. In four heterozygous women we were able to demonstrate a linear distribution of hypohidrotic areas. This pattern followed the lines of Blaschko, forming a typical V-shape over the spine. Apparently, these lines reflect the dorsoventral outgrowth of two functionally different populations of cells during early embryogenesis.

Back↗
PubMed1985

Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers.

Six male patients with confirmed X-linked hypohidrotic ectodermal dysplasia and their mothers were studied to determine the variation of expressivity in patients and heterozygotes, major problems of the patients, and to find a clue to pathogenesis. The number of teeth, conic in shape, in patients varied from none to 14. In addition to hypohidrosis and hypotrichosis, dry skin, reduced salivation, hoarseness and hypoplasia of the nipples were common signs. Five patients had frequent respiratory infections. The mothers lacked more than four permanent teeth, one mother had hypodontia in the deciduous dentition. The sweat pore counts were low in patients, and lower than normal in the mothers. All patients carried beta-hemolytic streptococci, four of them group A either in nose or pharynx, without symptoms. Immunoglobulin values, including IgA were normal in serum and saliva. Unexpectedly, serum parathyroid hormone concentrations both in patients and mothers were low. The major problem of the families was the risk of hyperpyrexia due to hypohidrosis, but the patients' concern was mostly because of their facial appearance.

Body Temperature Regulation↗
PubMed1985

Autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy (APECED): autosomal recessive inheritance.

A genetic analysis was made of 58 patients and their 42 families with APECED (autoimmune polyendocrinopathy--candidosis--ectodermal dystrophy). APECED is characterized by hypoparathyroidism, primary adrenocortical failure and chronic mucocutaneous candidosis, but none of its components is constant. Other endocrine deficiencies can occur as well and also dystrophy of dental enamel and nails. The proportion of affected siblings was 0.147 +/- 0.034 (S.D.) when corrected for truncate single ascertainment, 0.246 +/- 0.019 when corrected for a priori truncate complete ascertainment and 0.240 +/- 0.047 when corrected for a posteriori truncate complete ascertainment. The male/female ratio was 1.04. The results are compatible with autosomal recessive transmission. No heterozygous manifestations of the gene were found. The gene is enriched in isolated subpopulations in central and eastern Finland. APECED is part of the "Finnish heritage of disease".

Adrenal Insufficiency↗
PubMed1989

X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.

A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.

Child, Preschool↗
PubMed1991

Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome.

Four members in three generations of a family had Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.

Adult↗
PubMed1991

EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) with a balanced reciprocal translocation between 7q11.21 and 9p12 (or 7p11.2 and 9q12) in three generations.

Familial cases (a grandfather, a father and a daughter) of the EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) are reported. All of them have a balanced reciprocal translocation (46,XY or XX, t(7;9) (q11.21;p12) or (46,XY or XX, t(7;9) (p11.2;q12)), but no other members of the family have either the EEC syndrome or chromosome abnormalities. This indicates that one of the chromosome sites 7q11.21, 9p12, 7p11.2 and 9q12 is a candidate for gene locus of the EEC syndrome.

Adult↗
PubMed1991

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis.

Six patients with the ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome, namely five members of the same family and one sporadic case, are presented. One of the main features of the EEC syndrome, ectrodactyly, was missing in five of the patients. The diagnosis did not become clear until the youngest son of the family was born. All of our six patients had a low birth weight and some were born preterm, and four had poly- and/or syndactyly without ectrodactyly. A low birth weight and polysyndactyly have been reported previously in patients with the EEC syndrome and might be features of the syndrome. The present patients illustrate the great phenotypic variability in the EEC syndrome and the need for a careful search for microsymptoms in potential gene-carriers. In two members of the affected family, EEC syndrome was diagnosed prenatally after 16 weeks of gestation by detection of the cleft lip and palate on ultrasound examination. The mother chose to continue the pregnancies. However, prenatal diagnosis of cleft lip and palate might be of value in genetic counselling for other inherited syndromes leading to severe disability.

Adult↗
PubMed2005

Human fibroblast-derived cell lines have characteristics of embryonic stem cells and cells of neuro-ectodermal origin.

Fibroblasts are the most ubiquitous cells in complex organisms. They are the main cells of stromal tissue and play an important role in repair and healing of damaged organs. Here we report new data-initially serendipitous findings-that fibroblast-derived cell line (human fetal lung derived cells, MRC-5) have the morphology, growth rate and gene expression pattern characteristic of embryonic stem cells and cells of neuro-ectodermal origin. We have developed a serum-free culture system to maintain these cells in proliferative state. We discovered that, at proliferative state, these cells express transcription factors of pluripotent cells, OCT-3/4 and REX-1, and embryonic cell surface antigens SSEA-1, SSEA-3, and SSEA-4, as well as TRA-1-60 and TRA-1-81. In addition to embryonic cell markers, the fibroblasts expressed neuroectodermal genes: Musashi-1, nestin, medium neurofilament, and beta-III tubulin. RT-PCR data revealed that mesencephalic transcription factors, Nurr-1 and PTX-3, were also expressed in MRC-5 cells, and that these cells could be induced to express tyrosine hydroxylase (TH). Expression of TH followed down-regulation of genes associated with cell proliferation, OCT-3/4, REX-1, and beta-catenin. These data indicate that the cells commonly known as fibroblasts have some of the characteristics of stem cells, and can be induced to become neuroectodermal cells and perhaps even mature neurons.

Biomarkers↗
PubMed2004

Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.

Child, Preschool↗
PubMedDate not supplied

Ectoderm- and endomesoderm-specific GATA transcription factors in the marine annelid Platynereis dumerilli.

The GATA family of transcription factors appears to retain conserved roles in early germ layer patterning in most, if not all, animals; however, the number and structure of GATA factor genes varies substantially when different animal genomes are compared. Thus, the origin and relationships of invertebrate and vertebrate GATA factors, and their involvement in animal germ layer evolution, are unclear. We identified two highly conserved GATA factor genes in a marine annelid, the polychaete Platynereis dumerilii. A phylogenetic analysis indicates that the two Platynereis GATA factors are orthologous to the GATA1/2/3 and GATA4/5/6 subfamilies present in vertebrates. We also identified conserved motifs within each GATA class, and assigned the divergent Caenorhabditiselegans and Drosophila melanogaster GATA factor genes to the vertebrate classes. Similar to their vertebrate homologs, PdGATA123 mRNA expression was restricted to ectoderm, whereas PdGATA456 was detected only in endomesoderm. Finally, we identified in genome databases one GATA factor gene in each of two distantly related cnidarians that include motifs from both bilaterian GATA factor classes. Our results show that distinct orthologs of the two vertebrate GATA factor classes exist in a protostome invertebrate, suggesting that bilaterian GATA factors originated from GATA1/2/3 and 4/5/6 ancestral orthologs. Moreover, our results indicate that the GATA gene duplication and the functional divergence that led to these two ancestral GATA factor genes occurred after the split of the bilaterian stem group from the cnidarians.

Animals↗
PubMed1988

Hypohidrotic ectodermal dysplasia: a genealogic, stereomicroscope, and scanning electron microscope study.

This is a report of three patients with hypohidrotic ectodermal dysplasia, or Christ-Siemens-Touraine syndrome, their genealogic backgrounds and the stereomicroscope and scanning electron microscopic appearances of the hair, the skin of their fingertips and palms as well as skin studies of members of their families. The skin morphology was recorded by means of silicone monomer rubber impressions and epoxy resin dyes. In two of the patients the disease was acquired by X-linked inheritance, while in the third, a boy, it appeared to follow an autosomal dominant pattern. Defects of the skin of the fingertips and palms of the propositi and members of the families included abnormalities of the morphology and pattern of the epidermal ridges, reduction of sweat pores varying from 13 to 87% of normal, and changed anatomy of the openings of the sweat glands. The openings were shallow and with less whorling compared to the normal, funnel-shaped sweat pores. Among the sweat pores, micropores, or openings with an average diameter of 5.3 micrometers, were observed. One of the propositi and the affected father of another had orifices on their fingertips resembling hair sheaths. Two propositi and the affected father of one exhibited grooving of the hair. The findings confirm the necessity for genealogic investigations in patients with or suspected of having the disease in order to advise parents or prospective parents. They also illustrate the usefulness of stereomicroscopy and scanning electron microscopy in observing skin and hair abnormalities.

Child↗
PubMedDate not supplied

Psychosocial stress and adaptive functioning in children and adolescents suffering from hypohidrotic ectodermal dysplasia.

In its fully manifest form, hypohidrotic ectodermal dysplasia (HED) leads to a typical dysmorphia of the face, referred to as "old man" facies. Few studies have been conducted on how children and adolescents deal with and adapt to the effects of this illness. The psychosocial stress and adaptive functioning of such patients was investigated by means of a semistructured interview conducted on a sample of 14 children and adolescents with varying degrees of this disease. The results revealed that adaptive functioning is not only dependent on the severity of symptoms. The child's intellectual potential and personality, how the disease is dealt with within the family, and reactions from the child's environment influence adaptive functioning in different ways.

Adaptation, Psychological↗
PubMed1994

Hamartoma of the tongue in an infant with a primary diagnosis of ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome.

We describe a case of an unusual tongue hamartoma associated with ectrodactyly-ectodermal dysplasia-clefting syndrome in a 3-month-old white female infant. The lesion was composed of a mixture of salivary glands, adipose tissue, smooth muscle and skeletal muscle in a haphazard fashion. Lingual hamartomas are rare and can present a clinical differential diagnostic problem. We review the literature on this unique combination of malformations.

Abnormalities, Multiple↗
PubMed1998

Expression of the anhidrotic ectodermal dysplasia gene is reduced in skin cancer coinciding with reduced E-cadherin.

X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by defects in the development of hair, teeth, and sweat glands. We have recently cloned the gene for EDA by positional cloning. The EDA gene encodes a transmembrane protein with a putative role in epithelial mesenchymal interactions. Since EDA could play a role in cell-cell or cell-matrix adhesion, acantholytic skin diseases and several types of non-invasive and invasive skin cancers were studied using in situ hybridization. Because of the observation that the promoter region of the EDA gene contains a binding site for LEF-1, which is involved in the signaling through E-cadherin/beta catenin complex, we compared the expression of EDA with immunolocalization for E-cadherin (E-CD). EDA expression during hair growth cycle, in benign adnexal tumors, and neuroectoderm-derived nevus cells was also examined. Our findings indicate that EDA expression is less abundant in malignant tumors, including basal and squamous cell carcinomas and melanoma, and in acantholytic keratinocytes compared to normal epidermis. The reduction in expression also coincides with diminished E-CD staining in all malignant cell types and in acantholytic cells. Our results suggest that EDA protein functions in the regulation of epithelial cell contacts and that it may be associated with the E-CD signaling pathway.

Adult↗
PubMed2004

Aplasia of submandibular salivary glands associated with ectodermal dysplasia.

We describe a 28-year-old white Caucasian man displaying many of the physical signs of ectodermal dysplasia (ED). An unusual finding was his presentation with xerostomia. Salivary gland imaging techniques revealed aplasia of both submandibular salivary glands and relatively small parotids. The case highlights that hypoplasia and aplasia of exocrine glands could be rare features of ED. In the management of ED, early detection of xerostomia is important to limit any potential damage to the already hypodontic dentition.

Adult↗
PubMed1990

Rapp-Hodgkin ectodermal dysplasia.

A rare case of ectodermal dysplasia--the Rapp-Hodgkin syndrome--is presented. Its diagnosis is discussed and the importance of a multidisciplinary management and genetic counselling outlined.

Child, Preschool↗