@entity3202 is a group of @entity74 resulting from defects in several hemidesmosome-anchoring filament components. Because hemidesmosomes are involved not only in keratinocyte-extracellular matrix adherence, but also in normal anchorage of keratin intermediate filaments to the basal keratinocyte membrane, we questioned whether this intracellular function of hemidesmosomes was also perturbed in @entity3202 . We used quantitative electron microscopic methods to assess certain morphologic features of hemidesmosome-keratin intermediate filaments interactions in skin from normal subjects (n = 11) and from @entity1 with different forms of @entity3202 (n = 13). In addition, skin from @entity1 with @entity74 simplex with @entity16246 defects (n = 3) or with autosomal recessive @entity4240 (n = 4) were included as controls. Values were expressed as a percentage of the total number of hemidesmosomes counted. In normal skin 83.3% +/- 3.3 (SEM) hemidesmosomes were associated with keratin intermediate filaments and 90.1% +/- 1.9 had inner plaques. In @entity3202 (laminin 5 abnormalities, n = 4) these values were reduced to 45.3% +/- 11.5 (p < 0.001; analysis of variance) and 50.3% +/- 12.8 (p < 0.001), respectively. In @entity3202 with @entity45289 (alpha6beta4 abnormalities, n = 3) the values were also reduced [41.8% +/- 7.0 (p < 0.001) and 44.5% +/- 5.7 (p < 0.001), respectively]. In the non-Herlitz group (laminin 5 mutations, n = 3) the counts were 66.7% +/- 7.1 (p > 0.05) and 70.5% +/- 8.5 (p < 0.05), and in skin from @entity1 with bullous pemphigoid antigen 2 mutations (n = 3) the counts were 54.3% +/- 13.8 (p < 0.01) and 57.1% +/- 13.9 (p < 0.01). In @entity2640 simplex associated with @entity16246 mutations the values were 31.9% +/- 8.9 (p < 0.001) for keratin intermediate filaments association and 39.9% +/- 7.1 (p < 0.001) for inner plaques. Findings in recessive @entity4240 @entity1 ' skin were indistinguishable from normal control skin with inner plaques (90.5% +/- 2.5) and keratin intermediate filaments attachment (86.3% +/- 2.1). These findings suggest that the molecular abnormalities underlying different forms of @entity3202 appear to affect certain critical intracellular functions of hemidesmosomes, such as the normal connections with keratin intermediate filaments. This may have important implications for the maintenance of basal keratinocyte integrity and resilience in @entity3202 .

Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of XXXX .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity45289 :: ('MESH:C562561', 'Disease') :: ['pyloric atresia'] @entity4240 :: ('MESH:D016108', 'Disease') :: ['dystrophic epidermolysis bullosa'] @entity2640 :: ('MESH:D004820', 'Disease') :: ['epidermolysis bullosa'] @entity3202 :: ('MESH:D016109', 'Disease') :: ['Herlitz junctional epidermolysis bullosa', 'Junctional epidermolysis bullosa', 'junctional epidermolysis bullosa'] @entity16246 :: ('5339', 'Gene') :: ['plectin'] @entity74 :: ('MESH:D030342', 'Disease') :: ['hereditary bullous disorders', 'autosomal recessive epidermolysis bullosa']
@entity2640 :: (MESH:D004820,Disease) :: ['epidermolysis bullosa']
