Epidermolysis Bullosa: A Clinical, Genetic and Epidemiological Study

A painstaking effort spanning eight years is described in the new book on epidermolysis bullosa by Tobias Gedde-Dahl. The author carefully identified all individuals with this disease in Norway and described in great detail the clinical features of each case. The study is a combined clinical and genetic analysis of 53 probands and 96 of 104 living secondary cases. Of the 46 families, there are 12 cases of epidermolysis bullosa without dystrophy; the remaining 33 had epidermolysis bullosa with distrophy and one family had late-appearing epidermolysis bullosa in a proband and mild nondystrophic epidermolysis bullosa in a secondary case. Of the 12 non-dystrophic epidermolysis bullosa families, there were eight cases of epi-dermolysis bullosa simplex and four sporadic cases not typical of epi-dermolysis bullosa simplex. The clinical analysis of the patients with epidermolysis bullosa dys-trophia is the most rewarding feature of the study. Five different clinical types were described in the recessive epidermolysis bullosa category, each of which "bred true" in the families. An extensive analysis of genetic markers is included in the study. The book represents an extraordinarily detailed clinical study. Although the abundance of detail renders the study useless for the medical student, it will inevitably become a source book for the dermatologist with a special interest in blistering diseases. The book has two weaknesses. The bulk of genetic and clinical detail makes reading difficult. It resembles a doctoral dissertation with all the footnotes incorporated into the text. The second flaw is the lack of his-tology. With light and electron microscope analysis of the clinical material, the study would have been monumental. The cause of rheumatoid arthritis is not yet known; nor is there any one characteristic chemical factor that would enable the physician unequivocally to make the correct diagnosis. Although recent research has concentrated on the immunologic and inflammatory mechanisms underlying rheumatoid arthritis, the search continues for some abnormal, diminished, or excessive chemical substance in various body fluids which might point either to the underlying etiology of the disease or serve as a diagnostic aid. This brief monograph summarizes the efforts of many investigators who have contributed to this area. Unfortunately, it reveals that few chemical agents have been found which have been helpful thus far in solving the dilemmas of rheumatoid arthritis. Inconsistencies are common, depending upon methods used, and the abnormal findings are unexplained or are not specific for rheumatoid disease. Thus, although many workers have …