Traupe H, Kolde G, Hamm H, Happle R
J Am Acad Dermatol. 1986 Jun;14(6):1000-5. doi: 10.1016/s0190-9622(86)70123-0.
We report the second family of ichthyosis bullosa, an entity that was first described by Siemens in 1937 and since then has fallen into oblivion. Clinically, ichthyosis bullosa is characterized by blistering resembling epidermolysis bullosa simplex and by generalized, yet circumscribed dark gray hyperkeratoses covering mainly the arms and the legs. Lichenification and superficially denuded areas (mauserung) are further prominent features. Histology disclosed intracorneal blister formation corresponding to the mauserung phenomenon and epidermolytic hyperkeratosis that was confined to the granular layer and to the uppermost layers of the prickle cells. On electron microscopic examination the keratinocytes of these layers displayed structural alterations of tonofilaments as usually observed in epidermolytic hyperkeratosis. Thus ichthyosis bullosa shares with bullous ichthyosiform erythroderma blistering and epidermolytic hyperkeratosis, but can be distinguished from this wellknown disease by the lack of erythroderma, by the mauserung phenomenon, by the confinement of acanthokeratolysis to the superficial layers of the epidermis, and by intracorneal blistering.
我们报告了大疱性鱼鳞病的第二个家系，该病症最初由西门子于1937年描述，此后便被遗忘。临床上，大疱性鱼鳞病的特征是出现类似单纯性大疱性表皮松解症的水疱，以及主要覆盖手臂和腿部的全身性、但边界清晰的深灰色角化过度。苔藓化和浅表剥脱区（mauserung）是更突出的特征。组织学检查显示，角质层内水疱形成与mauserung现象相对应，表皮松解性角化过度局限于颗粒层和棘细胞最上层。电子显微镜检查显示，这些层的角质形成细胞呈现出通常在表皮松解性角化过度中观察到的张力丝结构改变。因此，大疱性鱼鳞病与大疱性鱼鳞病样红皮病都有水疱形成和表皮松解性角化过度，但可通过无红皮病、mauserung现象、棘层松解局限于表皮浅层以及角质层内水疱形成与这种知名疾病相区分。
