... Abstract Inherited epidermolysis bullosa, which encompasses at least 30 distinctive genetic diseases, may be associated with marked functional impairment, the result of the presence of severe cutaneous and extracutaneous manifestations or complications in some of its subtypes. Inherited...

... Abstract Epidermolysis bullosa acquisita (EBA) is an acquired, mechanobullous disease characterizedby autoimmunity to type VII collagen. Type VII collagen makes anchoring fibrils,structures that connect the epidermis and its underlying basement membrane zone to the papillarydermis. EBA patients...

...References References 1. Fine J-D , Hintner H: Life with Epidermolysis Bullosa: Etiology, Diagnosis, and Multidisciplinary Care and Therapy. Wien, Springer, 2009. 2. Fine J-D, Johnson LB, Suchindran C, Moshell A, Gedde-Dahl T: The epidemiology of inherited EB: findings within American...

... by chemical and thermal burns (n = 22), pterygium (n = 9), congenital aniridia (n = 6), tumor excision (n = 2), perforating eye injury, mitomycin C, epidermolysis bullosa, bilateral graft-versus-host disease and chlamydial conjunctivitis (each n = 1). Results: Mean follow-up time was 28.5 ± 14.9 months...

... with potent corticosteroids or calcineurin inhibitors [ 63 ]. The benefits include relief of pruritus, pain, and inflammation [ 67 ]. Sequelae such as vulvar stenosis or squamous cell carcinoma are very rare in childhood [ 63 ]. Bullous and Urticarial Dermatoses Epidermolysis bullosa Epidermolysis...

... bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet. 1995 Sep;11(1):83–6. 36. Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, et al. A homozygous nonsense mutation...

... to the underlying membrane. Mutations in COL17A1 are linked to epithelial recurrent erosion dystrophy and epidermolysis bullosa, junctional, non-Herlitz type [ 35 ]. Mutations in COL17A1 also are linked to 4.4% of cases of amelogenesis imperfecta [ 13 ]. Mutations in LAMB3 or LAMA3 can also lead...

... AT: Prevalence and characterization of pruritus in epidermolysis bullosa. Pediatr Dermatol 2015;32:53-59. 25236506 10.1111/pde.12391 69. Petersen BW, Arbuckle HA, Berman S: Effectiveness of saltwater baths in the treatment of epidermolysis bullosa. Pediatr Dermatol 2015;32:60-63. 25644039 10.1111/pde...

... ichthyosis; IBS = ichthyosis bullosa of Siemens (epider-molysis bullosa simplex); IEC = ichthyosis en confettis; IV = ichthyosis vulgaris; KID = keratitis/ichthyosis/deafness syndrome; LI = lamellar ichthyosis; LK = loricrin keratoderma; NLSDI = neutral lipid storage disease with ichthyosis (Chanarin-Dorfman...

... and ultrastructural changes in dystrophic epidermolysis bullosa resemble skin aging. Aging (Albany NY) 2015;7:389-411. 13. Pang T, Hisamitsu T, Mori H, Shigekawa M, Wakabayashi S: Role of calcineurin B homologous protein in pH regulation by the Na+/H+ exchanger 1: tightly bound Ca2+ ions as important structural...

... in a ten year old girl involving skin, eyes and oropharynx. J Pediatr 1942;20:753. 28. Greenberg SI, Messer AL: Fatal bullous dermatitis following administration of sulfadiazine. J Am Med Assoc 1943;122:944-944. 29. Ruskin DB: Fulminating dermatitis bullosa medicamentosa due to ‘mesantoin'. J Am...

... bullosa [ 61 , 68 ]. Therefore, impaired skin barrier function is found because of destroyed integrity of the skin. Basement Membrane → Tight Junctions Not much is known about the influence of BM on TJs. A deficiency in laminin or collagen IV is lethal in early murine embryonic development...