Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2020 Oct;183(4):614-627.
doi: 10.1111/bjd.18921. Epub 2020 Mar 11.

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

C Has  1 , J W Bauer  2 , C Bodemer  3 , M C Bolling  4 , L Bruckner-Tuderman  1 , A Diem  2 , J-D Fine  5 , A Heagerty  6 , A Hovnanian  7 , M P Marinkovich  8 , A E Martinez  9 , J A McGrath  10 , C Moss  11 , D F Murrell  12 , F Palisson  13 , A Schwieger-Briel  14 , E Sprecher  15 , K Tamai  16 , J Uitto  17 , D T Woodley  18 , G Zambruno  19 , J E Mellerio  10
Affiliations
Review

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

C Has et al. Br J Dermatol. 2020 Oct.

Abstract

Background: Several new genes and clinical subtypes have been identified since the publication in 2014 of the report of the last International Consensus Meeting on Epidermolysis Bullosa (EB).

Objectives: We sought to reclassify disorders with skin fragility, with a focus on EB, based on new clinical and molecular data.

Methods: This was a consensus expert review.

Results: In this latest consensus report, we introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Other disorders with skin fragility, where blisters are a minor part of the clinical picture or are not seen because skin cleavage is very superficial, are classified as separate categories. These include peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility. Because of the common manifestation of skin fragility, these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care.

Conclusions: The proposed classification scheme should be of value both to clinicians and researchers, emphasizing both clinical and genetic features of EB. What is already known about this topic? Epidermolysis bullosa (EB) is a group of genetic disorders with skin blistering. The last updated recommendations on diagnosis and classification were published in 2014. What does this study add? We introduce the concept of genetic disorders with skin fragility, of which classical EB represents the prototype. Clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors and natural history of EB are reviewed. Other disorders with skin fragility, e.g. peeling skin disorders, erosive disorders, hyperkeratotic disorders, and connective tissue disorders with skin fragility are classified as separate categories; these 'EB-related' disorders should be considered under the EB umbrella in terms of medical and socioeconomic provision of care. Linked Comment: Pope. Br J Dermatol 2020; 183:603.

PubMed Disclaimer

Comment in

References

    1. Fine J-D, Bruckner-Tuderman L, Eady RAJ et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol 2014; 70:1103-26.
    1. Has C, Liu L, Bolling M et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol 2020; 182:574-92.
    1. Uitto J, Atanasova VS, Jiang Q, South AP. Precision medicine for heritable skin diseases - the paradigm of epidermolysis bullosa. J Investig Dermatol Symp Proc 2018; 19:S74-6.
    1. Vahidnezhad H, Youssefian L, Saeidian AH, Uitto J. Phenotypic spectrum of epidermolysis bullosa: the paradigm of syndromic versus non-syndromic skin fragility disorders. J Invest Dermatol 2019; 139:522-7.
    1. Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 2009; 61:367-84; quiz 385-6.

Publication types

Grants and funding