Letters to the Editor
Case of dominant dystrophic epidermolysis bullosa pruriginosa with a c.7868G>A (G2623D) mutation in type VII collagen
Moyu Yajima,
Moyu Yajima
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto
Search for more papers by this author Hajime Nakano,
Hajime Nakano
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this author Daisuke Sawamura,
Daisuke Sawamura
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this author Yoshiki Miyachi,
Yoshiki Miyachi
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto
Search for more papers by this author Kenji Kabashima,
Corresponding Author
Kenji Kabashima
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto
Correspondence: Kenji Kabashima, M.D., Ph.D., Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan. Email:
[email protected]Search for more papers by this author
Moyu Yajima,
Moyu Yajima
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto
Search for more papers by this author Hajime Nakano,
Hajime Nakano
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this author Daisuke Sawamura,
Daisuke Sawamura
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan
Search for more papers by this author Yoshiki Miyachi,
Yoshiki Miyachi
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto
Search for more papers by this author Kenji Kabashima,
Corresponding Author
Kenji Kabashima
Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto
Correspondence: Kenji Kabashima, M.D., Ph.D., Department of Dermatology, Kyoto University Graduate School of Medicine, Kyoto 606-8507, Japan. Email:
[email protected]Search for more papers by this author
First published: 20 August 2012
No abstract is available for this article.
REFERENCES
- 1Shimizu H, Hammami-Hauasli N, Hatta N, Nishikawa T, Bruckner-Tuderman L. Compound heterozygosity for silent and dominant Glycine substitution mutations in COL7A1 leads to a marked transient intracytoplasmic retention of procollagen VII and a moderately severe dystrophic epidermolysis bullosa phenotype. J Invest Dermatol 1999; 113: 419–421.
- 2Almaani N, Lin L, Harrison N et al. New glycine substitution mutation in typeVII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter. Acta Derm Venereol 2009; 89: 6–11.
- 3Gardella R, Castiglia D, Posteraro P et al. Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. J Invest Dermatol 2002; 119: 1456–1462.
- 4Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes. J Med Genet 2007; 44: 181–192.
- 5Schumann H, Has C, Kohlhase J, Bruckner-Tuderman L. Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations. Br J Dermatol 2008; 159: 464–469.
