Rochman H, Cooper M, Esterly N B, Bauer E A
J Invest Dermatol. 1979 May;72(5):262-3. doi: 10.1111/1523-1747.ep12531719.
Circulating plasma levels of the oncofetal antigen, carcinoembryonic antigen, were examined in 18 patients with various forms of epidermolysis bullosa. Carcinoembryonic antigen was markedly elevated in the plasma of 4 of 6 patients with recessive dystrophic epidermolysis bullosa and in 1 of 2 patients with recessive epidermolysis bullosa letalis. In contrast, patients with dominantly inherited forms of the disease, dominant epidermolysis bullosa simplex and dominant dystrophic epidermolysis bullosa, had normal levels of antigen. In the recessive patients, the plasma levels of carcinoembryonic antigen appeared to correlate with the severity of cutaneous involvement. Alternatively, it is possible that expression of carcinoembryonic antigen is genetically linked to certain forms of recessive epidermolysis bullosa or is part of a pleiotropic effect of the gene coding for the disease.
检测了18例不同类型大疱性表皮松解症患者循环血浆中癌胚抗原这一肿瘤胎儿抗原的水平。在6例隐性营养不良型大疱性表皮松解症患者中的4例以及2例致死性隐性大疱性表皮松解症患者中的1例血浆中，癌胚抗原显著升高。相比之下，患有显性遗传形式疾病的患者，即单纯性显性大疱性表皮松解症和显性营养不良型大疱性表皮松解症患者，其抗原水平正常。在隐性患者中，癌胚抗原的血浆水平似乎与皮肤受累的严重程度相关。或者，癌胚抗原的表达可能在基因上与某些隐性大疱性表皮松解症形式相关联，或者是该疾病编码基因多效性效应的一部分。
