NOW AVAILABLE! XomeDxSlice – EB
Using whole exome capture and sequencing, ALL of the known genes for the various forms of Epidermolysis Bullosa (Dystrophica, Simplex, Junctional) can be analyzed at one time, achieving substantial savings in both cost and time, with little loss of sensitivity. In most cases, this should now be the test of first choice for a new patient with the diagnosis of Epidermolysis Bullosa.
In this clinical sub-type of JEB, blistering begins in the neonatal period and continues throughout life. Blisters are usually generalized and include oral and esophageal lesions. In addition, pyloric atresia or pyloric stenosis is present. In some patients urogenital malformations may also be evident. JEB-PA is often lethal in the newborn period; however surviving patients may show less severe blistering as they age, although in the patients described with ITGA6 mutations no surviving patients are described. The tissue separation (blister) occurs within or just above the lamina lucida at the level of the hemidesmosome. Alpha-6/Beta-4 integrin staining may be reduced or absent consistent with either ITGB4 or ITGA6 mutations. Plectin staining of a skin biopsy may be reduced or absent, consistent with PLEC1 mutations. In rare cases EB-PA has been identified on ultrasound in fetuses of families with no family history and mutation detection has identified ITGB4 or ITGA6 mutations , although this has not been described in EB cases with plectin defects.