Exclusion of COL7A1 mutation in Kindler syndrome.

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.

• Authors: Kana Yasukawa, Kazuko C Sato-Matsumura, James McMillan, Kikuo Tsuchiya, Hiroshi Shimizu
• Journal: Journal of the American Academy of Dermatology (J Am Acad Dermatol) Vol. 46 Issue 3 Pg. 447-50 (Mar 2002) ISSN: 0190-9622 [Print] United States
• PMID: 11862187 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Collagen Type VII

Topics

• Adolescent
• Collagen Type VII (genetics)
• Diagnosis, Differential
• Epidermolysis Bullosa Dystrophica (diagnosis)
• Humans
• Male
• Mutation
• Photosensitivity Disorders (diagnosis)
• Rothmund-Thomson Syndrome (diagnosis, genetics)
• Skin Diseases, Genetic (diagnosis, genetics)
• Skin Diseases, Vesiculobullous (diagnosis, genetics)
• Syndrome