SEARCH · PubMed Health
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.
This report presents the case of a teenager affected by hypohidrotic ectodermal dysplasia and rehabilitated with a fixed maxillary partial prosthesis and mandibular overdenture supported by osseointegrated implants. Treatment had a major impact on patient's self-esteem, function, and esthetics.
A case involving a 5-year-old girl with hypohidrotic ectodermal dysplasia is presented. A review of the disease and the treatment options for patients is discussed.
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.
A family is described where a mother and three sons have an unusual form of ectodermal dysplasia that may have been described in the medical literature only once before. The unusual manifestations in this family are mild short stature, sparse scalp hair, skin pigmentation and a transient urticarial-like reaction on the hands and arms. The mother and one son demonstrated a single, upper central incisor and the mother and another son had hypoplastic thumbs. The mother alone had hyperkeratosis of the palms and soles. The inheritance pattern is most likely autosomal dominant, although X-linked dominant inheritance cannot be excluded.
We report a brother and sister with ectodermal dysplasia, ectrodactyly, and macular dystrophy (the EEM syndrome). Both children had abnormalities of the hands and the hair, and bilateral macular degeneration. The clinical picture in both is similar to, but less severe than, that described in the previously reported cases of this rare syndrome. Even though the parents are not related, they are both of Jewish Yemenite origin, and the possibility of a common ancestor cannot be ruled out. This would suggest autosomal recessive inheritance. The clinical picture in these patients suggests either variable expression or genetic heterogeneity in the EEM syndrome and further delineates the clinical and genetic spectrum of this condition.
Hypohidrotic ectodermal dysplasia (HED), a congenital disorder of teeth, hair, and eccrine sweat glands, is usually inherited as an X-linked recessive trait, although rarer autosomal dominant and recessive forms exist. We have studied males from four families with HED and immunodeficiency (HED-ID), in which the disorder segregates as an X-linked recessive trait. Affected males manifest dysgammaglobulinemia and, despite therapy, have significant morbidity and mortality from recurrent infections. Recently, mutations in IKK-gamma (NEMO) have been shown to cause familial incontinentia pigmenti (IP). Unlike HED-ID, IP affects females and, with few exceptions, causes male prenatal lethality. IKK-gamma is required for the activation of the transcription factor known as "nuclear factor kappa B" and plays an important role in T and B cell function. We hypothesize that "milder" mutations at this locus may cause HED-ID. In all four families, sequence analysis reveals exon 10 mutations affecting the carboxy-terminal end of the IKK-gamma protein, a domain believed to connect the IKK signalsome complex to upstream activators. The findings define a new X-linked recessive immunodeficiency syndrome, distinct from other types of HED and immunodeficiency syndromes. The data provide further evidence that the development of ectodermal appendages is mediated through a tumor necrosis factor/tumor necrosis factor receptor-like signaling pathway, with the IKK signalsome complex playing a significant role.
Anhidrotic ectodermal dysplasia (EDA) is a rare X-linked recessive disorder characterized by the absence or hypoplasia of hair, teeth and sweat glands. The gene responsible for the disorder has recently been cloned. The predicted gene product is a 135 amino acid protein with no significant homology to previously known proteins. As a first step to analyze function, we have studied the subcellular localization of the EDA gene product expressed in two epithelial cell lines, COS-1 and MCF-7. Biochemical fractionation and confocal imaging analysis show that, in agreement with a single putative transmembrane domain inferred from its sequence, the EDA protein is transported to the plasma membrane. Moreover, in MCF-7 cells expression of EDA is associated with rounding and detachment of the cells. These results suggest that the EDA protein may be involved in cellular dynamics or signaling.
Explore the source record for details and available documents.
OBJECTIVE: To examine the craniofacial growth pattern of patients diagnosed with syndromic ectodermal dysplasia. DESIGN: Mixed longitudinal analysis of lateral cephalograms. SETTING: The data were analysed using a multilevel modelling technique with the MLwiN application software and the results presented numerically and graphically. SAMPLE POPULATION: All 61 subjects had severe hypodontia with the number of absent teeth (excluding third molars) ranging from 6 to 28 (mean = 15.4). At presentation the subjects had a mean age of 133 months and were followed longitudinally for between one and five subsequent occasions (mean 2.66 occasions; mean age at completion of observation 207 months). OUTCOME MEASURES: Lateral cephalograms taken at each visit. EXPERIMENTAL VARIABLES: Analysis of four angular measurements and four linear measurements, together with one calculated ratio. RESULTS: Growth curves are presented showing the trends of craniofacial growth. CONCLUSIONS: The most significant findings were for a universal tendency for the individuals to undergo a change in sagittal relationship of the jaws, becoming markedly more Class III with time. We have also demonstrated a significant difference in growth between the anterior and posterior face heights indicating that the subjects have a tendency to an anterior growth rotation.
We present a 3-year-old child with clinical features of ectodermal dysplasia comprising sparse hair, dystrophic and ridged nails and bilateral obstruction of the nasolacrimal ducts. Additional findings were unilateral choanal atresia, bilateral syndactyly of the feet and polydactyly. We discuss the differential diagnosis of these clinical findings.
We report on a 23-year-old women suffering from a hidrotic ectodermal dysplasia with baldness, xerodermia, kyphosis of the chest, hypopigmented mamillae, disturbances of the menstrual cycle, dysphonia and keratitis punctata superficialis recidivans. The complex condition is classified as a tricho-oculo-dermo-vertebral syndrome. Immunohistological findings suggest a combined alteration of epithelial differentiation of hair follicles and interfollicular epidermis.
A linkage study of 24 families with hypohidrotic (anhidrotic) ectodermal dysplasia (HED) has been performed. The previously suggested linkage to DXYS1 has been confirmed, and linkage to probes DXS14 and DXS3 has been established. We suggest that the HED locus lies in the centromeric region between DXYS1 on the long arm and DXS14 on the short arm of the X chromosome, probably on proximal Xq.
A case of a 3-year-old boy with X-linked hypohidrotic ectodermal dysplasia is presented. Complete maxillary and mandibular dentures were made at 3 years and 2 months of age. The process for making the dentures is described. Obtaining enough patient cooperation and proper application of behavioral management techniques are critical factors for the procedure described in the article.
We report two brothers with anhidrotic ectodermal dysplasia (AED). AED is characterised by a triad of inability to sweat dental abnormalities and hypotrichosis. Although rare, it is important to diagnose this condition as it may lead to considerable morbidity and mortality if unrecognised. The typical features of this entity as described in the literature and as seen in our patients are emphasized as increased awareness can lead to early diagnosis and better prognosis.
We describe five sporadic cases of the EEC syndrome (ectrodactyly, ectodermal dysplasia, and cleft lip). There are only a few reports of the syndrome being inherited in Japan. Two of the five patients had genitourinary anomalies and one mental retardation. Four of the five patients had clefts in the primary and secondary palate. All had deformities of the hands, polydactyly, syndactyly, and camptodactyly. Syndactyly could be a component of the syndrome.
We observed an adult female patient presenting an autosomal recessive ectodermal dysplasia difficult to classify among the various reported forms of this disease. She had the major signs of the hidrotic type of the disease (palmo-plantar hyperkeratosis, nail and hair dystrophies, and typical sweat glands) and anodontia as reported in the hypohidrotic form of the syndrome. We evaluated the function of the sweat glands and found them hyporeactive to a heat stimulus. Most of the epithelial alterations have improved under therapy by acitretin.
A more detailed knowledge of dental and craniofacial features in hypohidrotic ectodermal dysplasia (HED) during childhood is needed in order to include these characteristics among diagnostic criteria. The present study comprised 5 HED children, 4 males and 1 female, during the primary dentition phase. Clinical and radiological dental findings consisted of multiple congenitally missing primary teeth, conoid primary incisors, moderate to severe taurodontic second primary molars. Supernumerary cusps and diastema were found as well. A pattern of symmetry was assessed for hypodontia in the primary dentition. The cephalometric study compared the HED sample to a matched non-syndrome sample and revealed abnormally short maxillary depth (p < 0.05), strongly reduced lower facial height (p < 0.01) and a reduction in facial soft tissue thickness (p < 0.05 - p < 0.01) in HED children. The importance of an early diagnosis and treatment of HED dento-facial malformations so as to improve esthetics and function is stressed.
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.