Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa

Fine, Jo‐David; Bauer, Eugene A.; Briggaman, Robert A.; Carter, D. Martin; Eady, R.A.J.; Esterly, Nancy B.; Holbrook, Karen A.; Hurwitz, Sidney; Johnson, Lorraine; Lin, Andrew N.; Pearson, Roger; Sybert, Virginia P.

doi:10.1016/0190-9622(91)70021-s

Cited by 479 publications

(115 citation statements)

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“…The adhesion properties of HK␤3 cells seeded on different culture substrates were therefore further investigated. Adhesion of HK␤3 keratinocytes to BSA, collagen IV, laminin-1 and fibronectin substrates was significantly higher (740, 300, 490 and 160, 3,6,9) cells. Medium (1 ml) was immunoprecipitated using pAb SE144 (lanes 4,5,6) and mAb K140 (lanes 7,8,9) respectively) than that of the HK-LXSN cells, and similar to that of control normal human keratinocytes (Figure 3a).…”

Section: Resultsmentioning

confidence: 95%

“…Among them, the mild junctional forms of EB (JEB) appear particularly suitable, because these conditions do not require treatment of the whole integument. 9 JEB is a recessively inherited genodermatosis characterized by continuous blistering, consequent to mechanical trauma, with tissue separation within the lamina lucida of the basement membrane of the dermalepidermal junction. The various clinical forms of JEB have been associated with mutations in the genes encoding the hemidesmosome components and laminin-5, the major adhesion ligand of squamous and transitional epithelia.…”

Section: Introductionmentioning

confidence: 99%

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Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia

et al. 1998

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Herlitz junctional epidermolysis bullosa (H-JEB) providesdeposited into the extracellular matrix. Re-expression of a promising model for somatic gene therapy of heritable laminin-5 induced cell spreading, nucleation of hemidesmechano-bullous disorders. This genodermatosis is mosomal-like structures and enhanced adhesion to the culcaused by the lack of laminin-5 that results in absence of ture substrate. Organotypic cultures performed with the hemidesmosomes (HD) and defective adhesion of squamtransduced keratinocytes, reconstituted epidermis closely ous epithelia. To establish whether re-expression of lamiadhering to the mesenchyme and presenting mature heminin-5 can restore assembly of the dermal-epidermal attachdesmosomes, bridging the cytoplasmic intermediate filament structures lacking in the H-JEB skin, we corrected the ments of the basal cells to the anchoring filaments of the genetic mutation hindering expression of the ␤3 chain of basement membrane. Our results provide the first evilaminin-5 in human H-JEB keratinocytes by transfer of a dence of phenotypic reversion of JEB keratinocytes by laminin ␤3 transgene. The transduced keratinocytes synsomatic gene therapy and demonstrate that genetic treatthesized a recombinant ␤3 polypeptide that assembled ment of the mild forms of skin blistering diseases and other with the endogenous laminin ␣3 and ␥2 chains into a bioinherited extracellular matrix pathologies is a realistic goal. logically active laminin-5 that was secreted, processed and

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Section: Resultsmentioning

confidence: 95%

Section: Introductionmentioning

confidence: 99%

Corrective gene transfer of keratinocytes from patients with junctional epidermolysis bullosa restores assembly of hemidesmosomes in reconstructed epithelia

et al. 1998

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“…Histopathologically, as a result of acute degeneration of basal cells of the epidermis, a cleavage at the level of the basal cell layer was observed which is associated with the development of intraepidermal bullae (11,16,17). The disease generally appears at or shortly after birth (3,7,12).…”

Section: Discussionmentioning

confidence: 99%

Epidermolysis Bullosa - A Report Of Two Cases

Akgül

Bilge

Yılmaz

2002

ADUM

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“…Histological investigation under the electron microscope revealed a line cleavage between the plasma membrane of the basal cells and the basal membrane, and within the lamina lucida of the dermoepidermal junction (6,9,11,20,21).…”

Section: Discussionmentioning

confidence: 99%

“…The lesions generally occur on the skin but they also commonly appear on the mucosa. Over twenty subtypes of EB have been defined by the genetical and clinical studies that have been carried out so far (10,11). The types of the disease are defined based on the ultrastructural level of tissue cleavage followed by mechanical traumas (dermolytic, epidermolytic or lamina lucidolytic), clinical characteristics (scarring or non-scarring), and mode of inheritance (autosomal dominant or autosomal recessive) (1,5,9,(12)(13)(14)(15)(16).…”

Section: Introductionmentioning

confidence: 99%