Bauer E A, Gedde-Dahl T, Eisen A Z
J Invest Dermatol. 1977 Mar;68(3):119-24. doi: 10.1111/1523-1747.ep12492226.
Human skin collagenase was quantitated by radioimmunoassay in 40 patients with various forms of epidermolysis bullosa to compare levels of the enzyme in blistered and clinically unaffected skin. Immunoreactive human skin collagenase was significantly elevated in the blistered skin of patients with both recessive and dominant forms of dystrophic epidermolysis bullosa (DEB). In addition, patients with generalized recessive DEB manifested a 4-fold increase in collagenase protein in normal-appearing skin, and patients with localized recessive DEB or epidermolysis bullosa letalis showed a 3-t to 3.5-fold elevation in the enzyme. However, patients with dominantly inherited DEB failed to displays a statistically significant increase in immunoreactive collagenase in nonblistered skin. Although it cannot be definitely stated whether the elevated collagenase content in the blistered skin represents a primary or secondary event, such as part of a wound healing response, the demonstration of markedly increased levels of collagenase in normal-appearing skin could, in part, provide an explanation at the molecular level for the formation of blisters in this disease.
采用放射免疫分析法对40例不同类型大疱性表皮松解症患者的人皮肤胶原酶进行定量分析，以比较水疱部位皮肤和临床未受累皮肤中该酶的水平。在隐性和显性营养不良型大疱性表皮松解症（DEB）患者的水疱皮肤中，免疫反应性人皮肤胶原酶显著升高。此外，泛发性隐性DEB患者外观正常的皮肤中胶原酶蛋白增加了4倍，局限性隐性DEB或致死性大疱性表皮松解症患者的该酶水平升高了3至3.5倍。然而，显性遗传DEB患者未受累皮肤中的免疫反应性胶原酶在统计学上没有显著增加。虽然尚不能确切说明水疱皮肤中胶原酶含量升高是原发性事件还是继发性事件，例如伤口愈合反应的一部分，但外观正常的皮肤中胶原酶水平显著升高这一现象，在一定程度上可以从分子水平解释该疾病水疱形成的原因。
