Marghescu S, Anton-Lamprecht I, Rudolph P O, Kaste R
Hautarzt. 1984 Oct;35(10):522-9.
A 57-year-old female patient has had generalized cutaneous lesions since birth. Clinically there are patch- and band-like areas of erythrokeratotic and pigmented skin in reticular arrangement. The most important histological findings are band-like parakeratosis, psoriasiform acanthosis, vacuolization of the keratinocytes in the upper layers of the epidermis with a high frequency of binuclear cells, and deposits of amyloid in the dermis. Ultrastructurally, the formation of perinuclear shells built from a three-dimensional network of fine filaments is the most peculiar finding. Binuclear cells are frequently found from the first suprabasal layers. Oedematization of the perinuclear cytoplasm within the shells finally leads to vacuolization of the uppermost granular cells. The horny layer is parakeratotic and contains debris of nuclei and lipid vacuoles. In the clinically normal appearing skin within the reticular network, keratinization occurs in a completely normal fashion. In spite of a good response to retinoid treatment, perinuclear shells and binuclear cells remain demonstrable in involved regions. The clinical, histological and ultrastructural peculiarities of this case suggest the diagnosis of a special type of congenital disturbances of keratinization, which can be clearly distinguished from the well-known ichthyosiform dermatoses and other inborn errors of keratinization.
一名57岁女性患者自出生以来全身皮肤出现病变。临床上,有呈网状排列的红斑角化性和色素沉着性皮肤的斑片状和带状区域。最重要的组织学发现是带状不全角化、银屑病样棘层肥厚、表皮上层角质形成细胞空泡化且双核细胞频率高,以及真皮内淀粉样蛋白沉积。超微结构上,由细丝三维网络构成的核周壳形成是最独特的发现。从基底上层开始就经常发现双核细胞。壳内核周细胞质水肿最终导致最上层颗粒细胞空泡化。角质层为不全角化,含有细胞核碎片和脂质空泡。在网状结构内外观正常的皮肤中,角化以完全正常的方式发生。尽管对维甲酸治疗反应良好,但在受累区域仍可显示核周壳和双核细胞。该病例的临床、组织学和超微结构特点提示诊断为一种特殊类型的先天性角化障碍,可与著名的鱼鳞病样皮肤病和其他先天性角化异常明显区分开来。