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 type of EB, blistering usually begins in the neonatal period and may continue throughout life or may be transient (transient bullous dermolysis of the newborn). Blisters may be generalized and include oral and esophageal lesions in the severest form (Hallopeau-Siemens) or may be localized to the elbows and knees, and/or hands and feet in the milder forms. In addition, dystrophic nails are also often present. Dystrophic EB is not usually lethal but in the severest cases infants may succumb to infection or other complications. The lifetime risk of squamous cell carcinoma in patients with the Hallopeau-Siemens form is over 90%. In affected individuals the tissue separation (blister) occurs below the lamina densa. Anchoring fibrils may be reduced or absent. Collagen VII staining may be reduced or absent in the more severe forms or may appear relatively normal in the milder forms.