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Exclusion of COL7A1 mutation in Kindler syndrome
Kana Yasukawa1, Kazuko C Sato-Matsumura, James McMillan
1Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo 060-8638, Japan. kanay@med.hokudai.ac.jp
Journal of the American Academy of Dermatology
|February 28, 2002
Abstract:
We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's DNA excluded any pathogenic COL7A1 mutations.