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Hypohidrotic Ectodermal Dysplasia (hypohidrotic + ectodermal_dysplasia)

Distribution by Scientific Domains

Medical Sciences	90%

Selected Abstracts

A Child with Hypohidrotic Ectodermal Dysplasia with Features of a Collodion Membrane

PEDIATRIC DERMATOLOGY, Issue 3 2006
Chad Thomas M.D.
Seventy percent of infants born with hypohidrotic (anhidrotic) ectodermal dysplasia are noted by their parents to have significant scaling and peeling. Although dry skin is a frequently reported sign in children with hypohidrotic ectodermal dysplasia, only one French study has reported a true collodion membrane at birth. We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia. [source]

Recombinant EDA or Sonic Hedgehog rescue the branching defect in Ectodysplasin A pathway mutant salivary glands in vitro

DEVELOPMENTAL DYNAMICS, Issue 10 2010
K.L. Wells
Abstract Hypohidrotic ectodermal dysplasia (HED) is characterized by defective ectodermal organ development. This includes the salivary glands (SGs), which have an important role in lubricating the oral cavity. In humans and mice, HED is caused by mutations in Ectodysplasin A (Eda) pathway genes. Various phenotypes of the mutant mouse EdaTa/Ta, which lacks the ligand Eda, can be rescued by maternal injection or in vitro culture supplementation with recombinant EDA. However, the response of the SGs to this treatment has not been investigated. Here, we show that the submandibular glands (SMGs) of EdaTa/Ta mice exhibit impaired branching morphogenesis, and that supplementation of EdaTa/Ta SMG explants with recombinant EDA rescues the defect. Supplementation of EdardlJ/dlJ SMGs with recombinant Sonic hedgehog (Shh) also rescues the defect, whereas treatment with recombinant Fgf8 does not. This work is the first to test the ability of putative Eda target molecules to rescue Eda pathway mutant SMGs. Developmental Dynamics 239:2674,2684, 2010. © 2010 Wiley-Liss, Inc. [source]

Structural hair shaft abnormalities in hypomelanosis of Ito and other ectodermal dysplasias

ACTA PAEDIATRICA, Issue 5 2000
E Selvaag
Hair samples from patients with different ectodermal dysplasias; hypohidrotic ectodermal dysplasia, pachyonychia congenita, tricho-dento-osseous syndrome, tricho-rhino-phalangeal syndrome, and hypomelanosis of Ito were investigated using a scanning electron microscope. The hairs of the patients showed different structural abnormalities; twisted hairs, longitudinal grooves, trichorrhexis nodosa as well as variations in the hair caliber. Hair shaft abnormalities, as in our patients with tricho-dento-osseous syndrome, and hypomelanosis of Ito have so far not been described. [source]

Non-invasive longitudinal assessment of facial growth in children and adolescents with hypohidrotic ectodermal dysplasia

EUROPEAN JOURNAL OF ORAL SCIENCES, Issue 4 2008
Claudia Dellavia
Facial growth patterns in 12 subjects (six boys and six girls) with hypohidrotic ectodermal dysplasia (HED) were analyzed and compared with facial growth patterns obtained in healthy reference peers. All subjects with HED were aged 7 yr (mean age ± standard deviation: 7.08 ± 0.41 yr) at the first examination and 14 yr (mean age ± standard deviation: 14.56 ± 0.34 yr) at the last examination. In each subject, the three-dimensional coordinates of facial landmarks were collected non-invasively at eight subsequent years. The volumes of forehead, nose, maxilla and mandible, upper lips, and lower lips were estimated. For each facial volume, differential values between different time points were calculated individually, separately for the ,childhood' (7,10 yr) and the ,adolescence' (11,14 yr) growth period in both HED and reference subjects. Children and adolescents with HED had a slightly reduced global facial growth in comparison with normal reference peers. The peak mandibular and maxillary development was delayed by approximately 2 yr towards later adolescence. The present non-invasive system seems to be useful for studying longitudinal changes of facial growth in healthy and syndromic subjects. [source]

Case report: Higher-than-expected prevalence of hypohidrotic ectodermal dysplasia in a rural Mexican setting: report of 20 cases

INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 9 2010
Nayellin Reyes-Chicuellar MD
First page of article [source]

Growth analysis of a patient with ectodermal dysplasia treated with endosseous implants: 6-year follow-up

JOURNAL OF ORAL REHABILITATION, Issue 3 2006
T. ALCAN
summary, The purpose of this article is to report the clinical course and 6-year follow-up of a child with ectodermal dysplasia who was treated with implants surgery very early. This article reports placement of mandibular endosseous implants in a 4-year-old patient with hypohidrotic ectodermal dysplasia and oligodontia. This congenital anomaly does not appear to retard healing and the osseointegration remains after 6 years and 3 months of loading. Mandibular and maxillary skeletal growth and development was normal. However, because of lack of alveolar growth, in time, patient's vertical growth pattern changed to low angle. This could be corrected by changing the vertical heights of the abutment and prosthesis. As a result, in ectodermal dysplasias cases with anadontia, early implant placement and fixed prosthesis could be a good multidisciplinary treatment option for poor cooperative child. [source]

Anthropometric and cephalometric measurements in X-linked hypohidrotic ectodermal dysplasia

ORTHODONTICS & CRANIOFACIAL RESEARCH, Issue 4 2007
MO Lexner
Structured Abstract Authors,,, Lexner MO, Bardow A, Bjorn-Jorgensen J, Hertz JM, Almer L, Kreiborg S. Objective,,, To describe the somatic development and craniofacial morphology in males affected with hypohidrotic ectodermal dysplasia (HED) and female carriers and to find clinical markers for early clinical diagnosis of possible female carriers. Design,,, A clinical and radiographic examination of the affected males and the female carriers. Setting and sample population,,, Twenty-four affected males and 43 female carriers with a known mutation in the ED1 gene were examined in a dental clinic in either Copenhagen or Aarhus, Denmark. Experimental variables,,, Height, body mass index (BMI) and head circumference. Cephalometric analysis of the craniofacial morphology. Outcome measure,,, Data on the somatic and craniofacial development in the affected males and female carriers. Results,,, No difference was observed regarding body height in the affected males and female carriers, BMI values were lower than the mean in most affected boys and adolescence and head circumference was somewhat decreased in both groups compared to normative data. The cephalometric analysis showed a reduced maxilla length and prognathism, a normal size and shape of the mandible and a reduced sagittal jaw relationship in both HED groups. Furthermore, affected males had a retroclined nasal bone and a more anteriorly inclined maxilla. A short nose, protruding lips, reduced facial convexity and facial height, characterized the soft tissue profile of the affected males. In female carriers, the lips were significantly retruded when compared with controls. Conclusion,,, No specific somatic or cephalometric markers could be observed, in the female carrier group. [source]