Dystrophic epidermolysis bullosa pruriginosa (DEB-Pr, OMIM #604129) is one of the rarest subtypes of EB, characterized by severe itching, lichenoid or nodular prurigo-like lesions, violaceous linear scarring, milia, occasional albopapuloid lesions, localized primarily on the trunk and lower limbs, and nail dystrophy [
- Fine J.D.
- Eady R.A.
- Bauer E.A.
- Bauer J.W.
- Bruckner-Tuderman L.
- Heagerty A.
- et al.
The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB.
J Am Acad Dermatol. 2008; 58: 931-950
2]. No specific COL7A1 mutation responsible for DEB-Pr phenotype has been identified, so far [
- McGrath J.A.
- Schofield O.M.
- Eady R.A.
Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.
Br J Dermatol. 1994; 130: 617-625
- Yang C.S.
- Lu Y.
- Farhi A.
- Nelson-Williams C.
- Kashgarian M.
- Glusac E.J.
- et al.
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Pediatr Dermatol. 2012; 29: 725-731
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- The classification of inherited epidermolysis bullosa (EB): report of the third international consensus meeting on diagnosis and classification of EB.J Am Acad Dermatol. 2008; 58: 931-950
- Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features.Br J Dermatol. 1994; 130: 617-625
- An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.Pediatr Dermatol. 2012; 29: 725-731
- Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.Lab Invest. 1998; 78: 1483-1492
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- Immunofluorescence mapping for diagnosis of congenital epidermolysis bullosa.Actas Dermosifiliogr. 2010; 101: 673-682
- A novel splice site mutation in collagen type VII gene in a Chinese family with dominant dystrophic epidermolysis bullosa pruriginosa.Acta Derm Venereol. 2002; 82: 187-191
- Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.J Invest Dermatol. 1999; 112: 984-987
- Dystrophic epidermolysis bullosa pruriginosa with autoantibodies against collagen VII.Eur J Dermatol. 2012; 22: 541-542
- Epidermolysis bullosa pruriginosa: further clarification of the phenotype.Pediatr Dermatol. 2012; 29: 732-737
Published online: May 20, 2013
Accepted: April 19, 2013
Received in revised form: April 4, 2013
Received: October 12, 2012
© 2013 Japanese Society for Investigative Dermatology. Published by Elsevier Inc. All rights reserved.