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Results for “ECTODERMAL DYSPLASIA”

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At least 163 records · Page 9Linked to original sources
PubMed2002

Bilateral panuveitis in a child with hypohidrotic ectodermal dysplasia.

PURPOSE: To report a case of bilateral panuveitis in a patient with hypohidrotic ectodermal dysplasia. DESIGN: Interventional case report. METHODS: A 6-year-old African-American boy with hypohidrotic ectodermal dysplasia presented with pain, photophobia, and decreased vision in both eyes. RESULTS: Findings included severe bilateral panuveitis with optic disk edema, macular epiretinal membrane, peripheral retinal vasculitis, and retinitis. All other known causes of panuveitis were explored and ruled out. CONCLUSIONS: The abnormal development of tissues of ectodermal origin evident in hypohidrotic ectodermal dysplasia may include a predisposition to panuveitis.

Child↗
PubMed1994

[Pili torti et canaliculi in ectodermal dysplasia].

Uncombable hair is a heterogeneous symptom with a partially genetic background. In order to make an exact diagnosis, it is mandatory to recognize associated abnormalities, do pedigree analyses, and perform scanning electron microscopic studies of the hair. In a case of ectodermal dysplasia, ectrodactyly, cleft lip/palate (EEC) syndrome and in a patient with familial tricho-odonto-onychial ectodermal dysplasia with syndactyly, scanning electron microscopy demonstrated pili torti et canaliculi, helicotrichia and cuticular dystrophy. Congenital pili torti et canaliculi must be differentiated from pili torti and from pili trianguli et canaliculi ("cheveux incoiffables"), inasmuch as they may present in hypotrichosis congenita hereditaria of Marie-Unna or as part of complex ectodermal dysplasia syndromes with clefting of the lip/palate and/or limb defects. It is noteworthy that some of those patients show a dysmorphic facies and an atopic constitution in addition to the aforementioned abnormalities. We discuss the possible relationship of these syndromes to each other, with special respect to the Hay-Wells or ankyloblepharon, ectodermal dysplasia, cleft lip/palate (AEC) and the Rapp-Hodgkin (ectodermal dysplasia, midfacial hypoplasia, cleft lip/palate) syndromes.

Abnormalities, Multiple↗
PubMed1999

Placement of endosseous implants in children and adolescents with hereditary ectodermal dysplasia.

OBJECTIVE: The purposes of this investigation were to study the feasibility of placing endosseous implants in children and adolescents with ectodermal dysplasia and to assess the position and stability of such implants during growth. This article reports on 6 subjects with long-term follow-up. Study design. A prospective study was commenced in 1991. Patients with hereditary ectodermal dysplasia who were over the age of 5 years and who presented to the University of California San Francisco Ectodermal Dysplasia Clinic for dental treatment were included and maintained in the study. In each case, clinical and radiographic records were obtained before treatment, immediately after implant placement, at delivery of the prosthesis, and subsequently at yearly intervals. Six subjects are reported, 4 as members of the prospective study group and 2 who had been treated before the study began. RESULTS: A total of 41 implants (19 maxillary, 22 mandibular) were placed. The average follow-up after implant placement was 7.8 years (range, 6-11 years), and the average time since restoration was 6 years (range, 5-10 years). Forty implants successfully integrated and have been restored. There was no evidence that implant placement or prosthetic rehabilitation resulted in restriction of transverse or sagittal growth. One mandibular implant, placed in a partially dentate 5-year-old, became submerged because of adjacent alveolar development and required placement of a longer abutment. Four maxillary implants placed in a partially dentate 7-year-old also became submerged and required prosthetic revision and the placement of longer abutments. CONCLUSIONS: This preliminary report suggests that endosseous implants can be successfully placed and can provide support for prosthetic restoration in patients with hereditary ectodermal dysplasia. However, vertical dentoalveolar growth results in submergence of the implant relative to the adjacent natural dentition when implants are placed adjacent to erupting permanent teeth.

Adolescent↗
PubMed1996

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein.

Ectodermal dysplasias comprise over 150 syndromes of unknown pathogenesis. X-linked anhidrotic ectodermal dysplasia (EDA) is characterized by abnormal hair, teeth and sweat glands. We now describe the positional cloning of the gene mutated in EDA. Two exons, separated by a 200-kilobase intron, encode a predicted 135-residue transmembrane protein. The gene is disrupted in six patients with X;autosome translocations or submicroscopic deletions; nine patients had point mutations. The gene is expressed in keratinocytes, hair follicles, and sweat glands, and in other adult and fetal tissues. The predicted EDA protein may belong to a novel class with a role in epithelial-mesenchymal signalling.

Adult↗
PubMed1996

Clouston syndrome: an ectodermal dysplasia without significant dental findings.

The ectodermal dysplasias are a heterogeneous group of conditions primarily affecting the hair, teeth, nails, and skin, and are classified according to the tissue(s) affected. The classification categories are: (1) abnormalities of hair, (2) dental defects, (3) abnormalities of nail morphology, and (4) dyshidrosis. Individuals are grouped according to defects present with findings from two or more categories required for diagnosis. As this classification method is based on phenotype, variable expression or small family size may well have an impact on diagnosis. We report a four-generation family with a hair-nail (1-3) dysplasia with nail morphology that is typical of Clouston syndrome. All affected relatives have thick, discolored, hyperconvex nails with onycholysis, varying degrees of hair involvement, and are hidrotic. They lack hyperkeratosis and multiple caries as originally described in Clouston syndrome. We propose that morphologic abnormalities of the teeth may not occur in the phenotype of Clouston syndrome and that it can be considered a hair-nail (1-3) dysplasia.

Alopecia↗
PubMedDate not supplied

[Ectodermal dysplasia. Clinical case].

A case of ectodermal dysplasia with anodontia, and severe hypotrichosis is described. Clinical aspects and differential diagnosis with Huth-chinson-Gildorf syndrome are also discussed.

Anodontia↗
PubMed1996

Family with autosomal dominant hidrotic ectodermal dysplasia: a previously unrecognised syndrome?

We describe a three-generation family with an autosomal dominant hidrotic ectodermal dysplasia consisting mainly of tricho- and onychodysplasia. One of the patients had supraventricular tachycardia, another had palpitations, and two others had sinus brachycardia. We consider that the clinical manifestations in this family differ significantly from those of the Clouston syndrome (their previous diagnosis) and places them in Group A, subgroup 1-3 (tricho-onychic) of the ectodermal dysplasia classification proposed by Freire-Maia and Pinheiro [1988, "Ectodermal Dysplasias"].

Adolescent↗
PubMedDate not supplied

X-linked ectodermal dysplasia in the dog.

A male German shepherd pup had symmetrical areas of hairlessness as well as missing and misshapen teeth. There was no family history of a similar phenotype. In biopsies of the hairless skin and foot pads there were no hair follicles, adnexal structures, or eccrine glands. These findings resemble those in ectodermal dysplasia in the Tabby mouse and anhidrotic/hypohidrotic ectodermal dysplasia (HED) in man, which are both X-linked recessive disorders and thought to be homologous gene defects. While similar cases of ectodermal dysplasia have been reported in the dog and some genetic studies carried out, definitive confirmation of X-linked inheritance of canine ectodermal dysplasia is lacking. Family studies and experimental matings using the propositus gave results that confirm X-linked recessive inheritance. On statistical grounds, it is concluded that ED in the propositus is due to a new mutation. A colony of dogs with this mutation is maintained for further study.

Animals↗
PubMed2000

[Syndromes 17. Hypohidrotic ectodermal dysplasia].

The X-linked hypohidrotic ectodermal dysplasia (HED) is characterized by hypohidrosis, hypotrichosis and hypodontia. Sebaceous and salivary glands ar also affected. Recognition of the syndrome usually comes from affected man, although female carriers may show symptoms. Dental treatment is complicated and should be coordinated by a dentist in a centre for special dental care. Cooperation with an orthodontist and an oral and maxillofacial surgeon is advocated.

Anodontia↗
PubMed1990

Ectodermal dysplasia: the otolaryngologic manifestations and management.

Ectodermal dysplasia is a rare group of diseases presenting special problems in management for the otolaryngologist, but the full spectrum of otorhinolaryngologic manifestations has been previously unrecognized in the otolaryngologic literature. The anhidrotic form, characterized by deficient sweating, sparse hair growth and deficient teeth, with associated decreased mucous production in the aerodigestive tract leads to chronic upper respiratory tract infections, otitis, dysphagia, hoarseness, bronchitis and sometimes hemoptysis.

Acute Disease↗
PubMed2000

Ectodermal dysplasias: not only 'skin' deep.

The ectodermal dysplasias (EDs) are a large and complex nosologic group of diseases; more than 170 different pathologic clinical conditions have been identified. Despite the great number of EDs described so far, few causative genes have been identified. We review EDs in the light of the most recent molecular findings and propose a new classification of EDs integrating both molecular-genetic data and corresponding clinical findings of related diseases.

Animals↗
PubMed1998

Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23.

Margarita Island ectodermal dysplasia (ED4) is an autosomal recessive disorder characterized by unusual facies, dental anomalies, hypotrichosis, palmoplantar hyperkeratosis and onychodysplasia, syndactyly, and cleft lip/cleft palate. We have used an affected-only DNA-pooling strategy to carry out linkage disequilibrium mapping of the ED4 gene to 11q23. Haplotype analysis of four complex Margarita Island ED4 families localized the ED4 gene to an approximately 1-2-Mb interval spanned by just two YACs.

Chromosome Mapping↗
PubMed1996

Prosthodontic management of ectodermal dysplasia: a review of the literature.

Ectodermal dysplasia is commonly a difficult condition to manage with prosthodontics because of the typical oral deficiencies and because the afflicted individuals are quite young when they are evaluated for treatment. It is important that these individuals receive dental treatment at an early age for physiologic and psychosocial reasons. This article reviews the literature that pertains to the prosthodontic treatment of the disorder and the review includes considerations in behavior management and timing of treatment.

Anodontia↗
PubMed2007

Prosthodontic treatment of hypohidrotic ectodermal dysplasia with complete anodontia: case report.

The hereditary condition known as ectodermal dysplasia is characterized by the absence or defect of 2 or more ectodermally derived structures. A case of a 6-year-old child with hypohidrotic ectodermal dysplasia with complete anodontia is presented. Common dental, oral, and physical conditions were taken into consideration. Clinical management consisted of removable complete dentures to improve psychologic development and to promote better functioning of the stomatognathic system.

Anodontia↗
PubMed2005

A costs analysis of dental treatment for ectodermal dysplasia.

OVERVIEW: Dental treatment modalities for ectodermal dysplasia (ED) vary markedly depending on the clinical manifestations, but to date there have been no studies exploring the potential economic impact of ED. On the basis of anecdotal and clinical reports, the authors postulate that costs of dental treatment for this condition can have a substantial financial impact on patients and their families. OBJECTIVE: The purpose of the authors' pilot study was to develop an economic model for various treatment modalities for ED with severe hypodontia. METHODS: The authors first used a comprehensive review of the literature and expert consensus to establish a treatment modalities model for ED. Next, they completed chart reviews to validate the model with sample treatment and costs information. Using these data, they then constructed a model of treatment options and associated costs. RESULTS: The sample included 24 patients with ED who had severe hypodontia. Forty-two percent were female; patients' ages ranged from 4 years, 11 months to 31 years, 1 month. Forty-two percent had dental insurance coverage, while more than one-half paid for services out of pocket. An estimated 84 percent had undergone prosthodontic treatment, 37 percent orthodontic treatment and 19 percent implant surgery. Depending on the age of the patient and types of dental treatment, there was a broad variation in costs. This ranged from $2,038 to $3,298 for those who had received prosthodontic treatment only; it ranged from $12,632 to $41,146 for those who had received a combination of prosthodontic, orthodontic and implant treatment. CONCLUSIONS: Dental treatment for ED had a marked financial impact on patients and their families and varied depending on the type and duration of treatment.

Adolescent↗