Can a definitive diagnosis of the various EB types be made on clinical presentation?


Recessive dystrophic EB with immunomapping with fluorescent marker for laminin. Note that the laminin that is found on the dermal side of the basement membrane zone is on the roof of an induced blister. (Courtesy of James E. Fitzpatrick, MD.)
Fig. 6.6 Recessive dystrophic EB with immunomapping with fluorescent marker for laminin. Note that the laminin that is found on the dermal side of the basement membrane zone is on the roof of an induced blister. (Courtesy of James E. Fitzpatrick, MD.)
Electron microscopic study of an induced blister in EB simplex demonstrating a split (arrow) in the cytoplasm of the basilar keratinocyte. (Courtesy of James E. Fitzpatrick, MD.)
Fig. 6.7 Electron microscopic study of an induced blister in EB simplex demonstrating a split (arrow) in the cytoplasm of the basilar keratinocyte. (Courtesy of James E. Fitzpatrick, MD.)
No. In newborns and infants, it is virtually impossible to tell these disorders apart. Several techniques can aid in establishing the correct diagnosis. One such technique is immunomapping, which involves the use of antibodies directed against known proteins located at specific sites in the skin. The patient’s skin is subjected to minor trauma followed by a biopsy. The specimen is then “mapped” with the locating antibodies (Fig. 6-6). This technique locates the actual level of the blister formation in the skin specimen and determines the major category of mechanobullous disorder (i.e., epidermal, junctional, or dystrophic). The diagnosis can be further refined by using monoclonal antibodies that are specific for the missing or altered proteins. At many institutions, where electron microscopy (EM) is available, the tissue is also examined under EM, which can add additional information in making the diagnosis of EB (Fig. 6-7).