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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Collagen Type VII / genetics*
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Diagnosis, Differential
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Epidermolysis Bullosa Dystrophica / diagnosis
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Humans
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Male
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Mutation
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Photosensitivity Disorders / diagnosis
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Rothmund-Thomson Syndrome / diagnosis
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Rothmund-Thomson Syndrome / genetics
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Skin Diseases, Genetic / diagnosis
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Skin Diseases, Genetic / genetics*
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Skin Diseases, Vesiculobullous / diagnosis
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Skin Diseases, Vesiculobullous / genetics*
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Syndrome