Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ EPIDERMOLYSIS BULLOSA (EB) ++ Disorder with the formation of bullae and erosions following mechanical trauma to the skin and mucosa All types of EB patients exhibit fragile skin and blisters. Scarring, nail dystrophy, milia, and scarring alopecia occur in the forms involving the lamina lucida and below Gene defects cause abnormalities in structural proteins of the epidermis and the epidermal-dermal junction Subtypes are classified based on the ultrastructural level of blisters (Table 14-1), mode of inheritance, and the clinical features There are four major EB types (Table 14-2) and multiple related subtypes (Table 14-3) ++Table Graphic Jump LocationTable 14-1Ultrastructural Findings Among Major Types and Selected Subtypes of EBView Table||Download (.pdf) Table 14-1 Ultrastructural Findings Among Major Types and Selected Subtypes of EB EB Type or Subtype Ultrastructural Site of Skin Findings Other Ultrastructural Findings EB simplex (EBS) EBS, localized Basal layer Split may spread to suprabasilar layer EBS, DM Basal layer in subnuclear cytoplasm Dense, circumscribed clumps of keratin filaments (most commonly observed EBS-MD Predominantly in basal layer, above level of HD attachment plaque Reduced integration of keratin filaments with HD EBS-AR Basal keratinocytes Absent or reduced keratin filaments within basal keratinocytes EBSS Split usually at interface between granular and cornified cell layers — EBS, lethal acantholytic Suprabasal cleavage and acantholysis Perinuclear retraction of keratin filaments EBS, plakophilin-1 deficiency Midepidermal cell-cell separation Diminutive suprabasal desmosomes; perinuclear retraction of keratin filaments EBS-PA Lower basal layer, above level of HD plaque Reduced integration of keratin filaments with HD Junctional EB (JEB) JEB-H Lamina lucida Markedly reduced or absent HD; absent SBDP JEB-nH Lamina lucida HDs may be normal or reduced in size and number JEB-PA Lamina lucida Small HD plaques often with attenuated SBDP Dominant dystrophic EB (DDEB) DDEB, generalized Sublamina densa Normal or decreased numbers of AFs DDEB-BDN Sublamina densa Electron-dense stellate bodies within basal layer; reduced AFs Recessive dystrophic EB (RDEB) RDEB, severe generalized Sublamina densa Absent or rudimentary AFs RDEB, generalized other Sublamina densa Reduced or rudimentary-appearing AFs RDEB-BDN Sublamina densa Electron-dense stellate bodies within basal layer; reduced AFs AF, anchoring fibril; AR, autosomal recessive; BDN, bullous dermolysis of the newborn; DM, Dowling-Meara; EBSS, EBS superficialis; H, Herlitz; HD, hemidesmosome; MD, muscular dystrophy; nH, non-Herlitz; PA, pyloric atresia; SBDP, sub-basal dense plate. Reprinted with permission from Fine JD, Eady RA, Bauer EA, 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 Jun;58(6):931–950. Epub 2008 Apr 18. ++Table Graphic Jump LocationTable 14-2The Four Major EB TypesView Table||Download (.pdf) Table 14-2 The Four Major EB Types Level of Skin Cleavage Major EB Type Known Targeted Protein(s) Intraepidermal (“epidermolytic”) EBS Keratins 5 and 14; plectin; α6β4 integrin; plakophilin-1; desmoplakin Intralamina lucida (“lamina lucidolytic”) JEB... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.