BACKGROUND: @entity1 with @entity4240 ( @entity4240 ) have deficiencies of collagen type VII and have elevated levels of fibroblast collagenase, and a greatly increased risk of @entity957 . @entity1 with other genetic blistering disorders do not have elevated collagenase or an increased risk of @entity957 , despite chronic wounding. The connection between collagen @entity2483 , increased collagenase, and @entity957 is not understood. MATERIALS AND METHODS: Urine from 81 @entity1 with @entity4240 (39 @entity1 ), @entity3202 ( @entity3202 ; 12 @entity1 ), and @entity8612 ( @entity8612 ; 30 @entity1 ), as well as unaffected family members of @entity4240 @entity1 (33 @entity1 ), was tested for the presence of @entity540 ( @entity540 ) using a sensitive radioimmunoassay. These @entity1 included many who were enrolled in the Epidermolysis Bullosa Registry and others who were referred by their physicians. RESULTS: Fifty-one percent of @entity1 with @entity4240 had elevated levels (> 5000 pg/g) of urinary @entity540 . In contrast, none of the @entity1 with @entity3202 had elevated levels of @entity540 . Twenty-one percent of clinically unaffected family members had elevated levels of @entity540 , and 13% of @entity1 with @entity8612 had elevated levels of @entity540 . The frequency of elevated @entity540 values among all groups was statistically significant (p = 0.002), and the levels of @entity540 in @entity4240 @entity1 were significantly elevated compared with those of other groups (p < 0.05). CONCLUSIONS: We have found that @entity1 with @entity4240 have elevated levels of @entity540 , which may contribute to increased fibroblast collagenase and the development of @entity957 . These results suggest a novel treatment for @entity4240 , namely, angiogenesis inhibitors, which may antagonize the effects of @entity540 in this disorder. There are currently no other means of treatment for this disorder, which has a high morbidity and mortality rate.

@entity540 : a missing link between collagen VII, increased collagenase, and XXXX in @entity4240 .

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity957 :: ('MESH:D002294', 'Disease') :: ['squamous cell carcinoma', 'cutaneous squamous cell carcinoma'] @entity4240 :: ('MESH:D016108', 'Disease') :: ['RDEB', 'recessive dystrophic epidermolysis bullosa'] @entity3202 :: ('MESH:D016109', 'Disease') :: ['JEB', 'junctional epidermolysis bullosa'] @entity540 :: ('2247', 'Gene') :: ['bFGF', 'basic fibroblast growth factor'] @entity8612 :: ('MESH:D016110', 'Disease') :: ['epidermolysis bullosa simplex', 'EBS'] @entity2483 :: ('MESH:C566443', 'Disease') :: ['type VII deficiency']
@entity957 :: (MESH:D002294,Disease) :: ['squamous cell carcinoma']
