Anhidrotic ectodermal dysplasia (AED): Description, Causes and Risk Factors:Anhidrotic ectodermal dysplasia characterized by absent or defective sweat glands, saddle-shaped nose, hyperpigmentation around the eyes, malformed or missing teeth, sparse hair, dysplastic nails, smooth, finely wrinkled skin, syndactyly, absent breast tissue, and occasionally mental retardation; X-linked recessive inheritance, caused by mutation in the ED1 gene on chromosome Xq. There is also an autosomal recessive form.Anhidrotic ectodermal dysplasia is a rare disorder. It is commonly transmitted as an X-linked recessive disorder; however, rarely autosomal recessive and autosomal dominant inheritance also been seen.AED manifests as a triad of defects, partial or complete absence of sweat glands, anomalous dentition, and hypotrichosis. Affected children unable to sweat, may experience episodes of high fever in warm environment and may be mistakenly considered to have fever of unknown origin. The typical facies is characterized by frontal bossing, malar hypoplasia, a flattened nasal bridge, recessed columella, thick everted lips, wrinkled hyperpigmented periorbital skin and prominent low set ears. The skin over the entire body is dry, finely wrinkled and hypopigmented and often with prominent venous return. Anodontia or hypodontia with widely spaced, conical teeth are consistent features. Poor development of mucous gland in the respiratory and GI tract may result in increased susceptibility to respiratory infection, purulent rhinitis, dysphonia, and diarrhea.The gene for anhidrotic ectodermal dysplasia was the first X-chromosomal gene whose map position was suggested, based on the occurrence of an X; autosome translocation in a female patient with the disease phenotype. Later linkage studies confirmed the suggested position of the gene at Xq12-q13.1 (XLHED-gene). Mutations in the EDAR gene (2q11-q13) and the EDARADD gene (1q42.2-q43) can also cause AED, but this is considerably rarer.The recent cloning of the gene has led to the identification of a novel transmembrane protein "ectodysplasin" (TNF family ligand) and receptor "edar" (TNF receptor). This TNF ligand and receptor have a developmental regulatory role and are tightly associated with epithelial-mesenchymal interactions and signaling pathways that regulate ectodermal appendage formation and organogenesis during the initiation of development.The prevalence of anhidrotic ectodermal dysplasia is unknown; however, the incidence in male is estimated at 1 in 147,000 births although the condition is usually overlooked in infants.Symptoms:Signs & Symptoms:Forehead appears square with frontal bossing.
Episodes of hyperpyrexia and severe respiratory infections, which may be life-threatening.
Diagnosis:Early diagnosis is important to help prevent complications owing to overheating. A Multidisciplinary approach should be involved in diagnosing the syndrome.A detailed family history identifying other family members with anhidrotic ectodermal dysplasia facilitates an early diagnosis. The severity of the condition varies from family-to-family, as well as within families.Approximately 30-40% of affected die during the first 2 years of life as a result of hyperpyrexia or fulminant respiratory infections. The sweating deficit is a reflection of hypoplasia or absence of eccrine glands which may be diagnosed by skin biopsy. Tile palmar skin is an appropriate site for biopsy. Linkage analysis can be used for prenatal and early neonatal diagnosis.Imaging:Perform orthopantomography at an early age if hypodontia or dental abnormalities are present.
X-rays of hands, feet, or both may demonstrate specific skeletal deformities.
Renal ultrasonography, voiding cystourethrography, and intravenous pyelography may be helpful in evaluating children with anhidrotic ectodermal dysplasia in association with cleft lip and/or palate for underlying Genitourinary tract anomalies.
Treatment:Treatment of these children includes protecting them from exposure to high ambient temperature. Early dental evaluation is necessary so that prosthesis can be provided for cosmetic reasons and for adequate nutrition.Early repair of cleft lip or palate may lessen facial deformities and improve speech. Other midfacial defects or hand/foot deformities may be surgically corrected in order to improve function and reduce physical disfigurement.Allogeneic stem cell transplantation has been performed in a small number of patients with autosomal dominant AED with immunodeficiency (AED-ID); poor engraftment and post-transplant complications were common.NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.
According to a new study by the Smidt Heart Institute in Los Angeles, women’s blood vessels age faster than men’s and that puts them at higher risk of heart disease. Previously, it was believed that women after the age of 50 have a higher risk of developing...
A new study from Qingdao University in China suggests that senior people who have trouble with sleeping at night may have a higher risk of developing cognitive issues or dementia than their peers who fall asleep easily. For the study, a team of researchers examined...
No Results Found
The page you requested could not be found. Try refining your search, or use the navigation above to locate the post.
When it is so hot outside you still can find hundreds of ways to cool yourself and drinking a mocktail is one of them. Here are few wonderful recipes for you to try. Kiwi Sour 1 oz orange juice 3 slices kiwi 0.75 oz demerara green tea syrup 0.75 oz lime juice 1 oz...
Many people are motivated for active sports in spring. However, before you buy a membership, you should check which exercises are useful to you and which ones should not be done in any way. Unfortunately, nowadays there are practically no people with an absolutely...
In childhood, many of us dreamed of learning to jump high. Now, after years, it became easier - Kangoo Jumps has appeared. This is one of the relatively new, but quickly gaining popularity types of fitness training. There are several advantages of jumpers. ...
Privacy & Cookies Policy
Necessary cookies are absolutely essential for the website to function properly. This category only includes cookies that ensures basic functionalities and security features of the website. These cookies do not store any personal information.
Any cookies that may not be particularly necessary for the website to function and is used specifically to collect user personal data via analytics, ads, other embedded contents are termed as non-necessary cookies. It is mandatory to procure user consent prior to running these cookies on your website.