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 DNA excluded any pathogenic COL7A1 mutations.
Yasukawa
Kana
K
Department of Dermatology, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo 060-8638, Japan. kanay@med.hokudai.ac.jp
Sato-Matsumura
Kazuko C
KC
McMillan
James
J
Tsuchiya
Kikuo
K
Shimizu
Hiroshi
H
D000293:Adolescent; D024143:Collagen Type VII / Q000235:genetics*; D003937:Diagnosis, Differential; D016108:Epidermolysis Bullosa Dystrophica / Q000175:diagnosis; D006801:Humans; D008297:Male; D009154:Mutation; D010787:Photosensitivity Disorders / Q000175:diagnosis; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000235:genetics*; D012872:Skin Diseases, Vesiculobullous / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D024143:Collagen Type VII