Exclusion of COL7A1 mutation in Kindler syndrome - 01/09/11
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. (J Am Acad Dermatol 2002;46:447-50.)
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Supported in part by a grant-in-aid for scientific research from the Ministry of Education, Science, Sports and Culture of Japan and Keio Gijuku Academic Development Funds, Tokyo, Japan (to H. S.). |
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Reprint requests: Kana Yasukawa, MD, Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, 060-8638, Japan. E-mail: kanay@med.hokudai.ac.jp. |
Vol 46 - N° 3
P. 447-450 - mars 2002 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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