Schwartz R A, Birnkrant A P, Rubenstein D J, Kim U, Burgess G H, Stoll H L, Chai S W, Southwick G J, Milgrom H
Cancer. 1981 Feb 1;47(3):615-20. doi: 10.1002/1097-0142(19810201)47:3<615::aid-cncr2820470332>3.0.co;2-t.
The unusual genetic disorder epidermolysis bullosa dystrophica has been reported in several patients in whom the chronic cutaneous scars led to the development of cutaneous squamous cell carcinoma. However, only one of these previously reported cases involved the autosomal dominant form of the disease; the remainder occurred in its recessive counterpart. We report the second and third patients with squamous cell carcinoma associated with the dominant form of epidermolysis bullosa dystrophica. In addition, we not only observed the previous electron microscopic findings of decreased numbers of anchoring fibrils beneath the basal lamina but have also noted marked disruption of the basal lamina itself.
据报道，数例患有一种罕见的遗传性疾病——营养不良性大疱性表皮松解症的患者，其慢性皮肤瘢痕导致了皮肤鳞状细胞癌的发生。然而，先前报道的这些病例中只有一例涉及该疾病的常染色体显性遗传形式；其余病例均为隐性遗传形式。我们报告了第二例和第三例与显性遗传形式的营养不良性大疱性表皮松解症相关的鳞状细胞癌患者。此外，我们不仅观察到了先前电镜检查发现的基底膜下锚定原纤维数量减少的情况，还注意到基底膜本身也有明显破坏。
