Exclusion of COL7A1 mutation in Kindler syndrome

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 D...

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Bibliographic Details
Published in:Journal of the American Academy of Dermatology 2002-03, Vol.46 (3), p.447-450
Main Authors: Yasukawa, Kana, Sato-Matsumura, Kazuko C., McMillan, James, Tsuchiya, Kikuo, Shimizu, Hiroshi
Format: Article
Language:English
Subjects:
Adolescent
Biological and medical sciences
Collagen Type VII - genetics
Dermatology
Diagnosis, Differential
Epidermolysis Bullosa Dystrophica - diagnosis
Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue
Humans
Male
Medical sciences
Mutation
Photosensitivity Disorders - diagnosis
Rothmund-Thomson Syndrome - diagnosis
Rothmund-Thomson Syndrome - genetics
Skin Diseases, Genetic - diagnosis
Skin Diseases, Genetic - genetics
Skin Diseases, Vesiculobullous - diagnosis
Skin Diseases, Vesiculobullous - genetics
Syndrome
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Summary: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.)
ISSN:0190-9622
1097-6787
DOI:10.1067/mjd.2002.117523