Burkhart C G, Ruppert E S
Clin Pediatr (Phila). 1981 Aug;20(8):493-6. doi: 10.1177/000992288102000801.
The three forms of dystrophic epidermolysis bullosa include the autosomal recessive form and two autosomal dominant variants, the Cockayne-Touraine and Pasini forms. Whereas all three forms are clinically characterized by milia, nail dystrophy, and scarring, the autosomal recessive form tends to be the most mutilating with frequent mucosal lesions. The Pasini variant often has generalized blistering commonly associated with mucosal involvement but to a lesser degree. The Cockayne-Touraine variant is usually localized to the extremities and tends to be the mildest form of dystrophic epidermolysis bullosa. Ultrastructurally, the blister is located below the basal lamina in all three variants. The anchoring fibrils are either absent or hypoplastic in each condition. The autosomal recessive form alone also demonstrates dermal collagenolytic activity. The ultrastructural differentiation between the two forms of the dominant dystrophic epidermolysis bullosa depends on a quantitative rather than qualitative assessment of the anchoring fibrils.
营养不良性大疱性表皮松解症的三种形式包括常染色体隐性形式以及两种常染色体显性变体，即科凯恩 - 图赖讷型和帕西尼型。尽管这三种形式在临床上均以粟丘疹、甲营养不良和瘢痕形成为特征，但常染色体隐性形式往往致残性最强，常有频繁的黏膜损害。帕西尼变体通常有广泛的水疱形成，常伴有黏膜受累，但程度较轻。科凯恩 - 图赖讷变体通常局限于四肢，往往是营养不良性大疱性表皮松解症最轻微的形式。在超微结构上，所有三种变体的水疱均位于基底层下方。在每种情况下，锚原纤维要么缺失，要么发育不全。仅常染色体隐性形式还表现出真皮胶原溶解活性。两种显性营养不良性大疱性表皮松解症形式之间的超微结构差异取决于对锚原纤维的定量而非定性评估。
