Dystrophic epidermolysis bullosa pruriginosa of elderly onset

Journal of Dermatology

Volumn 38, Issue 2, 2011, Pages 173-178

  Hayashi, Masahiro ^a,b   Kawaguchi, Masakazu ^a   Hozumi, Yutaka ^a   Nakano, Hajime ^c   Sawamura, Daisuke ^c   Suzuki, Tamio ^a  

^a YAMAGATA UNIVERSITY   (Japan)

^b Yamagata Prefectural Shinjo Hospital   (Japan)

^c HIROSAKI UNIVERSITY   (Japan)

Author keywords

COL7A1; dystrophic epidermolysis bullosa pruriginosa; elderly onset; glycine substitution; prednisolone

Indexed keywords

ANTIHISTAMINIC AGENT; DAPSONE; PREDNISOLONE; STEROID; TACROLIMUS;

AGED; ARTICLE; CASE REPORT; DISEASE COURSE; DRUG DOSE REDUCTION; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPITHELIZATION; GENE MUTATION; HUMAN; HUMAN TISSUE; LEG; MALE; NAIL DYSTROPHY; PAPULAR SKIN DISEASE; PRURIGO; PRURITIC ERYTHEMATOUS PAPULE; PRURITUS; SKIN BIOPSY; SKIN DEFECT; SKIN FRAGILITY; SKIN PRURITUS;

AGE OF ONSET; AGED; DIAGNOSIS, DIFFERENTIAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA; HUMANS; LEG DERMATOSES; MALE; PRURIGO;

EID: 79251591346     PISSN: 03852407     EISSN: 13468138     Source Type: Journal    
DOI: 10.1111/j.1346-8138.2010.00953.x     Document Type: Article

References (15)

1. McGrath JA, Schofield OM, Eady RA,. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-625.
2. Christiano AM, Greenspan DS, Lee S, Uitto J,. Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem 1994; 269: 20256-20262.
3. Mellerio JE, Ashton GH, Mohammedi R, et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999; 112: 984-987.
4. Schumann 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.
5. Shimizu 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.
6. Drera B, Castiglia D, Zoppi N, et al. Dystrophic epidermolysis bullosa pruriginosa in Italy: clinical and molecular characterization. Clin Genet 2006; 70: 339-347.
7. Murata T, Masunaga T, Shimizu H, et al. Glycine substitution mutations by different amino acids in the same codon of COL7A1 lead to heterogeneous clinical phenotypes of dominant dystrophic epidermolysis bullosa. Arch Dermatol Res 2000; 292: 477-481.
8. Chuang GS, Martinez-Mir A, Yu HS, et al. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol 2004; 29: 304-307.
9. Ee HL, Liu L, Goh CL, McGrath JA,. Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa. J Am Acad Dermatol 2007; 56: S77-S81.
10. Broekaert SM, Knauss-Scherwitz E, Biedermann T, et al. Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene. Acta Derm Venereol 2006; 86: 556-557.
11. Nakamura H, Sawamura D, Goto M, et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci 2004; 34: 195-200.
12. Almaani N, Liu L, Harrison N, et al. New glycine substitution mutations in type VII 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.
13. Yamasaki H, Tada J, Yoshioka T, Arata J,. Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. Br J Dermatol 1997; 137: 308-310.
14. Ozanic Bulic S, Fassihi H, Mellerio JE, McGrath JA, Atherton DJ,. Thalidomide in the management of epidermolysis bullosa pruriginosa. Br J Dermatol 2005; 152: 1332-1334.
15. Banky JP, Sheridan AT, Storer EL, Marshman G,. Successful treatment of epidermolysis bullosa pruriginosa with topical tacrolimus. Arch Dermatol 2004; 140: 794-796.