Epidermolysis Bullosa

  • Mourad MokniEmail author


Hereditary epidermolysis bullosa (HEB) is a group of genetic disorders characterized by fragile skin and mucous membranes with varying degrees of severity. The overall condition is generally classified into three major entities depending on the location of the bulla formation: (a) EB simplex (HEBS) which develops intraepidermal blisters at the level of the basal and suprabasal epidermal layers; (b) junctional EB (JHEB) developing blisters within the dermoepidermal basement membrane, primarily at the level of lamina lucida; and (c) dystrophic EB (DHEB) in which the blisters are located underneath the basement membrane in the upper papillary dermis. In addition, Kindler syndrome is considered as a particular subtype of HEB. Further classification of the group continues to evolve based on new criteria and recognition of up to 30 clinical subtypes [1, 2] (Table 39.1).


  1. 1.
    Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103–26.CrossRefPubMedGoogle Scholar
  2. 2.
    Laimer M, Prodinger C, Bauer JW. Hereditary epidermolysis bullosa. J Dtsch Dermatol Ges. 2015;13:1125–33.PubMedGoogle Scholar
  3. 3.
    Fine JD. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152:1231–8.CrossRefPubMedGoogle Scholar
  4. 4.
    Bothwell JE. Lethal epidermolysis bullosa in black South African neonates. Int J Dermatol. 1996;35:422–5.CrossRefPubMedGoogle Scholar
  5. 5.
    Cherif F, Mnajja N, Feriani S, et al. Hereditary epidermolysis bullosa in Tunisia: an epidemio-clinical and ultrastructural study. Arch Inst Pasteur Tunis. 2005;82:53–8.PubMedGoogle Scholar
  6. 6.
    Ben Halim N, Hsouna S, Lasram K, et al. Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia. Am J Hum Biol. 2016;28:171–80.CrossRefPubMedGoogle Scholar
  7. 7.
    Ciubotaru D, Bergman R, Baty D, et al. Epidermolysis bullosa simplex in Israel: clinical and genetic features. Arch Dermatol. 2003;139:498–505.CrossRefPubMedGoogle Scholar
  8. 8.
    Uitto J, Has C, Vahidnezhad H, et al. Molecular pathology of the basement membrane zone in heritable blistering diseases: the paradigm of epidermolysis bullosa. Matrix Biol. 2016; pii: S0945-053X(16)30112–3. Doi:
  9. 9.
    Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003;73:174–87.CrossRefPubMedPubMedCentralGoogle Scholar
  10. 10.
    Abu Sa'd J, Indelman M, Pfendner E, et al. Molecular epidemiology of hereditary epidermolysis bullosa in a Middle Eastern population. J Invest Dermatol. 2006;126:777–81.CrossRefPubMedGoogle Scholar
  11. 11.
    George AO. Epidermolysis bullosa, three cases in an African family-medical, social and economic problems in management in a developing country. Trop Geogr Med. 1988;40:171–3.PubMedGoogle Scholar
  12. 12.
    Hsu CK, Wang SP, Lee JY, et al. Treatment of hereditary epidermolysis bullosa: updates and future prospects. Am J Clin Dermatol. 2014;15:1–6.CrossRefPubMedGoogle Scholar
  13. 13.
    Chiaverini C, Bourrat E, Mazereeuw-Hautier J, et al. Hereditary epidermolysis bullosa: French national guidelines (PNDS) for diagnosis and treatment. Ann Dermatol Venereol. 2017;144:6–35.CrossRefPubMedGoogle Scholar

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© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Dermatology DepartmentLa Rabta HospitalTunisTunisia

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