Steijlen P M, Perret C M, Schuurmans Stekhoven J H, Ruiter D J, Happle R
Department of Dermatology, University of Nijmegen, The Netherlands.
Arch Dermatol Res. 1990;282(1):1-5. doi: 10.1007/BF00505636.
We report a third family affected with ichthyosis bullosa of Siemens, and we further delineate the clinical spectrum of this mild type of epidermolytic hyperkeratosis. Erythroderma had never been present in any of the affected individuals. All of them exhibited a brownish, rimpled hyperkeratosis, the main characteristic sites being the joints, the shins and the periumbilical region. Blistering occurred after slight mechanical trauma and even after sweating, resulting in superficially denuded areas. Two affected family members also suffered from chronic, relapsing pustular eruptions surrounded by a transient erythematous flare. Light- and electron-microscopic examination revealed epidermolytic hyperkeratosis limited to the upper part of the epidermis. The pustular lesions were found to be subcorneal blisters filled with neutrophils. Ichthyosis bullosa of Siemens can be clearly distinguished from bullous ichthyosiform erythroderma. The observation of subcorneal pustular dermatosis occurring in this phenotype provides further evidence for the genetic heterogeneity of epidermolytic hyperkeratosis.
我们报告了第三例患有西门斯大疱性鱼鳞病的家族，并进一步描述了这种轻度表皮松解性角化过度的临床谱。在所有受累个体中均未出现红皮病。他们均表现为褐色、皱缩的角化过度，主要特征部位为关节、小腿和脐周区域。轻微机械创伤甚至出汗后都会出现水疱，导致浅表剥脱区域。两名受累家庭成员还患有慢性复发性脓疱性皮疹，周围有短暂的红斑。光镜和电镜检查显示表皮松解性角化过度仅限于表皮上部。脓疱性损害为充满中性粒细胞的角层下疱。西门斯大疱性鱼鳞病可与大疱性鱼鳞病样红皮病明确区分。在该表型中观察到角层下脓疱性皮肤病为表皮松解性角化过度的遗传异质性提供了进一步证据。
