Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa

Journal of the American Academy of Dermatology

Volumn 56, Issue 5 SUPPL., 2007, Pages

  Ee, Hock Leong ^a   Liu, Lu ^b   Goh, Chee Leok ^a   McGrath, John A ^b  

^a NATIONAL SKIN CENTRE   (Singapore)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 4; GENOMIC DNA; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; SKIN BIOPSY;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; COLLAGEN TYPE VII; DIAGNOSIS, DIFFERENTIAL; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENES, DOMINANT; GENETIC PREDISPOSITION TO DISEASE; GLUTAMIC ACID; GLYCINE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE;

EID: 34147097517     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2006.10.017     Document Type: Article

References (21)

1. Fine J.D., Eady R.A., Bauer E.A., Briggaman R.A., Bruckner-Tuderman L., Christiano A., et al. Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 42 (2000) 1051-1066
2. Horn H.M., and Tidman M.J. The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 146 (2002) 267-274
3. McGrath J.A., Schofield O.M., and Eady R.A. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 130 (1994) 617-625
4. Mellerio J.E., Ashton G.H., Mohammedi R., Lyon C.C., Kirby B., Harman K.E., et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 112 (1999) 984-987
5. Chuang G.S., Martinez-Mir A., Yu H.S., Sung F.Y., Chuang R.Y., Cserhalmi-Friedman P.B., et al. A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa. Clin Exp Dermatol 29 (2004) 304-307
6. Jiang W., Bu D., Yang Y., and Zhu X. A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa. Acta Derm Venereol 82 (2002) 187-191
7. Hammami-Hauasli N., Raghunath M., Koter W., and Bruckner-Tuderman L. Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations. J Invest Dermatol 111 (1998) 1214-1219
8. Sawamura D., Goto M., Yasukawa K., Sato-Matsumura K., Nakamura H., Ito K., et al. Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa. J Hum Genet 50 (2005) 543-546
9. Nakamura H., Sawamura D., Goto M., Sato-Matsumura K.C., LaDuca J., Lee J.Y., et al. The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa. J Dermatol Sci 34 (2004) 195-200
10. Grunwald M.H., Amichai B., Avinoach I., Kedar T., and Berqman R. Dystrophic epidermolysis bullosa associated with eosinophilic infiltrate and elevated serum IgE. Pediatr Dermatol 16 (1999) 16-18
11. Lapinski P., Lapiere J.C., Traczyk T., and Chan L.S. Sporadic dystrophic epidermolysis bullosa with concomitant atopic dermatitis. Br J Dermatol 138 (1998) 315-320
12. Das J.K., Sengupta S., and Gangopadhyay A.K. Epidermolysis bullosa pruriginosa-report of three cases. Indian J Dermatol Venereol 71 (2005) 109-111
13. Ozanic Bulic S., Fassihi H., Mellerio J.E., McGrath J.A., and Atherton D.J. Thalidomide in the management of epidermolysis bullosa pruriginosa. Br J Dermatol 152 (2005) 1332-1334
14. Banky J.P., Sheridan A.P., Storer E.L., and Marshman G. Successful treatment of epidermolysis bullosa pruriginosa with topical tacrolimus. Arch Dermatol 140 (2004) 794-796
15. Chen X., Li G., and Zhu X. Study on COL7A1 gene mutation in an epidermolysis bullosa pruriginosa family. Zhonghua Yi Xue Za Zhi 80 (2000) 869-871
16. Murata T., Masunaga T., Shimizu H., Takizawa Y., Ishiko A., Hatta N., 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 292 (2000) 477-481
17. Yamasaki H., Tada J., Yoshioka T., and Arata J. Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cylclosporin. Br J Dermatol 137 (1997) 308-310
18. Lee J.Y., Pulkkinen L., Liu H.S., Chen Y.F., and Uitto J. A glycine-to-arginine substitution in the triple helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 108 (1997) 947-949
19. Cambiaghi S., Brusasco A., Restano L., Cavalli R., and Tadini G. Epidermolysis bullosa pruriginosa. Dermatology 195 (1997) 65-68
20. Christiano A.M., Hoffman G.G., Zhang X., Xu Y., Tamai Y., Greenspan D.S., et al. Strategy for identification of sequence variants in COL7A1 and a novel 2-bp deletion mutation in recessive dystrophic epidermolysis bullosa. Hum Mutat 10 (1997) 408-414
21. Mellerio J.E., Salas-Alanis J., Talamantes M.L., Horn H., Tidman M.J., Ashton G.H., et al. A recurrent glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa. Br J Dermatol 139 (1998) 730-737