Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene [8]

Acta Dermato-Venereologica

Volumn 86, Issue 6, 2006, Pages 556-557

  Broekaert, Sigrid M C ^a   Knauss Scherwitz, Evelin ^a   Biedermann, Tilo ^a   Metzler, Gisela ^a   Has, Cristina ^b   Kohlhase, Jürgen ^b   Röcken, Martin ^a   Schaller, Martin ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; COLLAGEN TYPE 7ALPHA 1; TACROLIMUS;

ADULT; ANAMNESIS; BIOPSY; CASE REPORT; CHROMOSOME 3P; CLINICAL FEATURE; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EPIDERMOLYSIS BULLOSA PRURIGINOSA; FEMALE; HUMAN; HUMAN TISSUE; LABORATORY TEST; LETTER; MUTATION; PRIORITY JOURNAL;

ADULT; AMINO ACID SUBSTITUTION; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GLYCINE; HUMANS; MUTATION, MISSENSE;

EID: 33845681676     PISSN: 00015555     EISSN: None     Source Type: Journal    
DOI: 10.2340/00015555-0147     Document Type: Letter

References (8)

1. Horn HM, Tidman MJ. The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol 2002; 146: 267-274.
2. McGrath JA, Schofield OMV, Eady RAJ. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617-625.
3. Mellerio JE, Ashton GHS, Mohammadi R, Lyon CC, Kirby B, Harman KE, et al. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa. J Invest Dermatol 1999; 112: 984-987.
4. Mellerio JE. Molecular pathology of the cutaneous basement membrane zone. Exp Dermatol 1999; 24: 25-32.
5. Terracina M, Posteraro P, Schubert M, Sonego G, Atzori F, Zambruno G, et al. Compound heterozygosity for a recessive glycine substitution and a splice site mutation in the COL7A1 gene causes an unusually mild form of localized recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1998; 111: 744-750.
6. Banky JP, Sheridan AT, Storer EL, Marshman G. Successful treatment of epidermolysis bullosa pruriginosa with topical tacrolimus. Arch Dermatol 2004; 140: 794-796.
7. Ozanic Bulic S, Mellerio JE, McGrath JA, Atherton DJ. Thalidomide in the management of epidermolysis bullosa pruriginosa. Br J Dermatol 2005; 152: 1332-1334.
8. Yamasaki H, Tada J, Yoshioka T, Arata J. Epidermolysis bullosa pruriginosa (McGrath) successfully controlled by oral cyclosporin. Br J Dermatol 1997; 137: 308-310.