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Ectodermal Dysplasia

educed, causing severe irritation, conjunctivitis, and extreme sensitivity to sunlight. There may also be cloudy corneas or cataracts associated with ED. Professional care helps to minimize the effects of sight.Most people with ED don’t have any visible nail abnormalities, but the nails are frequently dry and rough. On of the distinctive findings in one of the forms of ED is a short nail that fails to grow to the end of the finger. In others, the nails may be thin and fragile, thick and distorted, or brittle and slow-growing. Nails with any of these abnormalities may be more prone to infection.Some of the tests used to diagnose ED are a biopsy of the mucus membranes (shows absent mucous glands, hypo plastic mucous membranes) and a biopsy of the skin (shows absent or hypo plastic sweat glands)CauseThere are many different types of ectodermal dysplasia, but the X-linked anhidrotic ectodermal dysplasia is the most common. This condition affects only males. An autosomal dominant form exists in which female s and males are equally affected and is symptomatically almost identical to the X-linked form of the disease. In anhidrotic ectodermal dysplasia (EDA), most of the ectodermal layers of the body are affected. The EDA gene encodes isoforms of a trans membrane protein known as ectodysplasin. The sequence of the longest form of ectodysplasin is a collagenous area of 19 Gly-X-Y repeats and a pattern conserved in the tumor necrosis factor (TNF), a related ligand family. Similar to other members of collagenous membrane proteins and members of TNF-related ligands, ectodysplasin is a type II membrane protein and forms trimers. The membrane localization of ectodysplasin is asymmetrical and is found on the uppermost and lateral surfaces of the cells where it co-localizes with cytoskeleton structures. The TNF-like motif and cysteines are necessary for correct transport to the cell membrane. The ectodysplasin in a new member in the...

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