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PubMed2004

Soft-tissue facial areas and volumes in individuals with ectodermal dysplasia: a three-dimensional non invasive assessment.

The objective of this study was to supply quantitative information about the facial soft-tissues of a group of patients with hypohidrotic ectodermal dysplasia. The three-dimensional coordinates of 28 soft-tissue facial landmarks were obtained by an electromagnetic digitizer in 11 male and 9 female patients with hypohidrotic ectodermal dysplasia aged 7-41 years, and in 318 healthy individuals of the same age, ethnicity, and sex. From the landmarks, facial areas (eyes, ears, nose, and lips) and volumes (nose and lips) were calculated according to a geometrical model of face. Data were compared to those collected in the normal subjects by computing z-scores. Male and female z-scores were not significantly different. In the pooled sample, the deviations from the norm were particularly evident in the lips, with a significant (Student's t-test, P < 0.05) increment of the total lip area (mean z-score: 0.96) and of the vermilion area of the upper lip (mean z-score: 1.07), a finding negatively related (r = -0.632) to the number of teeth present in the mouth. The eye area was reduced in most patients, a finding significant on the left side (mean z-score: -0.76). Most of the facial areas and volumes of the ectodermal dysplasia patients had z-scores deviating only +/-2 standard deviations from the reference groups. Only 4% of measurements had z-scores larger than +/-3. Additionally, a large inter-individual variability was found, together with a certain age-related trend of improvement of the number of measurements within the +/-2 interval. The method allowed a simple, low cost, fast, and non invasive examination of the patients, and provided a quantitative assessment of the deviation from the norm.

Adolescent↗
PubMed1989

Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.

A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11-21 region carried out on 30 members of the family. Current screening possibilities for the carriers and prenatal diagnosis are discussed.

Ectodermal Dysplasia↗
PubMedDate not supplied

Ectodermal dysplasia with associated double tooth.

The case describes a double molar tooth in a seven-year-old girl who has ectodermal dysplasia. The most characteristic dental findings in ectodermal dysplasia are hypodontia and conically shaped crowns. In our case a double tooth was also present in the primary molar region, in addition to these characteristic findings.

Anodontia↗
PubMed2000

Management of ectodermal dysplasia in children--an overview.

Oral rehabilitation is often difficult for the young child with ectodermal dysplasia. Most affected children require extensive dental treatment in order to restore their appearance and function. Early intervention also helps children develop a positive self-image. This paper will review the dental management and timing of different treatment modalities for children with ectodermal dysplasia.

Adolescent↗
PubMed1995

"New" ectodermal dysplasia with mental retardation and syndactyly.

We describe a girl with an unusual form of ectodermal dysplasia. She was mildly mentally retarded, had normal height, weight, and head circumference, a large scalp defect, a peculiar face with large palpebral fissures, a broad nasal bridge and constantly open mouth, abnormally-modeled ears, syndactyly of fingers/toes, mild hypohidrosis, and severe onychogryposis. Her hair was short, abundant, and stiff, her eyebrows were sparse, and her skin was dry. Analysis of the literature showed that this type of association of ectodermal dysplasia and other defects has not been previously described.

Abnormalities, Multiple↗
PubMed2005

Growth characteristics of children with ectodermal dysplasia syndromes.

OBJECTIVE: Clinical observations suggested that growth abnormalities may be present in children with ectodermal dysplasia (ED) syndromes. This study characterizes the longitudinal pattern of growth in a cohort of children with the ED syndromes. We hypothesized that (1) linear and ponderal growth abnormalities are present in children with ED from infancy through adolescence, and (2) linear and ponderal growth abnormalities differ among the clinical variants of these disorders. METHODS: We studied 138 children who had ED and were registered with the National Foundation for Ectodermal Dysplasias, 74% of whom had clinical features consistent with the hypohidrotic EDs (HEDs). Height (or length) and weight measurements were obtained by standardized techniques and from review of available medical records. We converted these measurements to weight-for-height (children younger than 5 years and <103 cm in length) or BMI (children > or =2 years old). Height, weight, weight-for-height, and BMI were converted to age- and gender-specific z scores. We applied linear regression, 1-sample t tests, and analysis of variance to detect linear and ponderal growth abnormalities in children with ED compared with a reference population. RESULTS: Mean weight-for-age, weight-for-height, and BMI-for-age z scores but not height-for-age z score, were significantly lower in children with the ED syndromes than in the reference population. Mean weight-for-age and weight-for-height z scores but not BMI-for-age or height-for-age z scores increased significantly with increasing age. The mean height-for-age z score of children with the ED syndromes other than the HEDs was significantly lower than that of children with the HEDs. CONCLUSIONS: Growth abnormalities, measured as weight deficits, were present at an early age in children with the ED syndromes and persisted through adolescence. Height deficits were seen only in children with ED syndromes other than HEDs. Clinicians should evaluate carefully children with ED syndromes for growth abnormalities.

Adolescent↗
PubMedDate not supplied

[Hypohidrotic ectodermal dysplasia].

The authors report a case of Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). Diagnosed at the age of 2 months.

Ectodermal Dysplasia↗
PubMed1994

Type II congenital dyserythropoietic anemia in a patient with ectodermal dysplasia. Distinction from dyskeratosis congenita.

PURPOSE: We describe a patient who presented with severe anemia and ectodermal dysplasia. PATIENTS AND METHODS: This is a case report of a patient whose anemia was evaluated at New York Hospital and then returned to Australia where further testing was performed. RESULTS: The history indicated that this was a chronic anemia. Bone marrow examination showed binucleated late normoblasts consistent with congenital dyserythropoietic anemia type II (CDA II) and not dyskeratosis congenita. Paroxysmal nocturnal hemoglobinuria was excluded despite the presence of a positive sucrose hemolysis test. Other types of acquired and congenital anemias were excluded by testing. CONCLUSIONS: This is the first patient reported with coincident CDA II and ectodermal dysplasia.

Anemia, Dyserythropoietic, Congenital↗
PubMed1995

Ectodermal dysplasia syndrome in siblings with true keloids, stenosis of the esophagus after operations for congenital achalasia and renovascular hypertension due to stenosis of renal artery.

Ectodermal dysplasia syndrome (EDS) is a rare hereditary disease, with symptoms brought about by dysplasia of ectodermal tissue (such as skin, teeth, nails, and hair). This report details the cases of two siblings (41 and 43 year old sisters) with autosomal recessive and hydrotic EDS complicated by esophageal achalasia, postoperative stenosis of esophagus, true keloids, renovascular hypertension, incomplete malrotation of the bowel, and demyelination of the brain.

Adult↗
PubMed1994

Early treatment considerations for oligodontia in ectodermal dysplasia: a case report.

Two brothers diagnosed with ectodermal dysplasia were treated for 5 years during their mixed-dentition periods for problems arising from absence of teeth (oligodontia) and abnormally formed teeth. An individualized approach to restorative and prosthodontic management allowed dynamic and evolving treatment attuned to their concern about their appearance.

Anodontia↗
PubMed1984

Oro-facial manifestation of hypohidrotic ectodermal dysplasia--case report.

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.

Anodontia↗
PubMed1992

Autosomal recessive ectodermal dysplasia.

Seven cases of a peculiar autosomal recessive ectodermal dysplasia as a distinct nosologic entity are presented. The main symptoms of this rare, not fully delineated syndrome, are hypohidrosis, xeroderma, hypotrichosis, dystrophy of the teeth, benign acanthosis nigricans, and furrowed tongue. Other symptoms can include mental retardation, nail dystrophy, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma), and palmoplantar keratosis.

Adolescent↗
PubMed1975

The syndrome of ectrodactyly, ectodermal dysplasia, and clefting (EEC).

Early recognition of ectrodactyly, ectodermal dysplasia, and clefting of the lip and palate as a syndrome could result in more beneficial treatment for the patient. Patients with the EEC syndrome often have ocular and auricular deficiencies that progressively become more severe. These patients are often seen first by cleft palate teams who make the diagnosis. The patient's dental status requires frequent evaluation after corrective procedures for cleft lip and cleft palate.

Adolescent↗
PubMed1991

Using endosseous dental implants for patients with ectodermal dysplasia.

Congenitally missing teeth and poorly developed or absent alveolar ridges are signs often associated with various types of ectodermal dysplasia. Endosseous dental implants may be used to support fixed mandibular prostheses in patients with ectodermal dysplasia. Anatomical factors and age considerations require careful attention to treatment planning.

Adolescent↗
PubMed2001

Ectodermal dysplasias: a new clinical-genetic classification.

The ectodermal dysplasias (EDs) are a large and complex nosological group of diseases, first described by Thurnam in 1848. In the last 10 years more than 170 different pathological clinical conditions have been recognised and defined as EDs, all sharing in common anomalies of the hair, teeth, nails, and sweat glands. Many are associated with anomalies in other organs and systems and, in some conditions, with mental retardation.The anomalies affecting the epidermis and epidermal appendages are extremely variable and clinical overlap is present among the majority of EDs. Most EDs are defined by particular clinical signs (for example, eyelid adhesion in AEC syndrome, ectrodactyly in EEC). To date, few causative genes have been identified for these diseases. We recently reviewed genes known to be responsible for EDs in light of their molecular and biological function and proposed a new approach to EDs, integrating both molecular-genetic data and corresponding clinical findings. Based on our previous report, we now propose a clinical-genetic classification of EDs, expand it to other entities in which no causative genes have been identified based on the phenotype, and speculate on possible candidate genes suggested by associated "non-ectodermal" features.

Ectodermal Dysplasia↗
PubMed1987

Anthropometric analysis of the face in hypohidrotic ectodermal dysplasia: a family study.

Sixteen individuals with hypohidrotic ectodermal dysplasia (HED) were compared to normal standards as well as to 16 unaffected family members by using a series of 20 anthropometric measurements of the head and face. Individuals with HED were generally smaller than normal controls or their unaffected relatives. However, this size reduction was not uniform. Instead, it was most evident in the anterior-posterior dimensions of the lower two-thirds of the face, in facial height, and in the size of the ears, nose, and mouth. A stepwise discriminant function analysis indicated that a function constructed from four variables (depth of the lower face, width of the nose, mandibular arc, and total facial height) could accurately classify 96.7% of the 32 individuals in the combined sample of affected and unaffected individuals. These findings demonstrated that the face of individuals with HED is unique and can be useful in its diagnosis. Additional studies are needed to determine if similar-though-less-pronounced facial abnormalities can be used to detect minimally affected gene carriers of this presumably X-linked condition.

Adolescent↗
PubMed2003

Permanent correction of an inherited ectodermal dysplasia with recombinant EDA.

X-linked hypohidrotic ectodermal dysplasia (XLHED; OMIM 305100) is a genetic disorder characterized by absence or deficient function of hair, teeth and sweat glands. Affected children may experience life-threatening high fever resulting from reduced ability to sweat. Mice with the Tabby phenotype share many symptoms with human XLHED patients because both phenotypes are caused by mutations of the syntenic ectodysplasin A gene (Eda) on the X chromosome. Two main splice variants of Eda, encoding EDA1 and EDA2, engage the tumor necrosis factor (TNF) family receptors EDAR and XEDAR, respectively. The EDA1 protein, acting through EDAR, is essential for proper formation of skin appendages; the functions of EDA2 and XEDAR are not known. EDA1 must be proteolytically processed to a soluble form to be active. Here, we show that treatment of pregnant Tabby mice with a recombinant form of EDA1, engineered to cross the placental barrier, permanently rescues the Tabby phenotype in the offspring. Notably, sweat glands can also be induced by EDA1 after birth. This is the first example of a developmental genetic defect that can be permanently corrected by short-term treatment with a recombinant protein.

Amino Acid Sequence↗