Emmert S, Küster W, Schauder S, Neumann C, Rünger T M
Hautklinik und Poliklinik, Georg-August-Universität Göttingen.
Hautarzt. 1998 Aug;49(8):666-71. doi: 10.1007/s001050050807.
A mother and her son presented with erythrokeratodermia progressiva symmetrica Darier-Gottron. Both patients developed symmetrical erythematous and hyperkeratotic plaques on the extremities and face at the age of 6 months. At the age of 2 1/2 years the son suffered from rapid progression of the disease to involve the entire skin. The disease of his mother had shown a similar course, however, with spontaneous regression at the age of 10 years. The clinical features of this generalized condition were identical to congenital lamellar ichthyosis. Light microscopy was non-specific with orthohyperkeratosis, focal parakeratosis and acanthosis. Electron microscopy revealed numerous keratinosomes in the stratum granulosum, keratinosome-derived lamellae in the intercellular space and partly augmented keratohyalin with clumping. In the stratum spinosum short tonofilament bundles with clumping were remarkable. The child experienced a significant and persistent improvement with systemic retinoids. His mother's disease was successfully controlled with intermittent retinoid therapy. With the clinical and ultrastructural criteria presently available, an unambiguous differentiation between erythrokeratodermia progressiva symmetrica, usually a localized disorder of keratinization, however with intermittent generalization, and other disorders of keratinization seems difficult.
一位母亲和她的儿子患有进行性对称性红斑角化病（达里埃-戈特龙型）。两名患者均在6个月大时在四肢和面部出现对称性红斑和角化过度斑块。在2岁半时，儿子的病情迅速进展，累及全身皮肤。他母亲的病情也有类似病程，不过在10岁时自行消退。这种全身性疾病的临床特征与先天性板层状鱼鳞病相同。光镜检查无特异性，表现为正角化过度、灶性角化不全和棘层肥厚。电镜显示颗粒层有大量角质小体，细胞间间隙有角质小体衍生的板层，部分透明角质颗粒增多并聚集。在棘层，短张力细丝束聚集明显。患儿使用系统性维甲酸后病情有显著且持续的改善。他母亲的疾病通过间歇性维甲酸治疗得到成功控制。根据目前可用的临床和超微结构标准，进行性对称性红斑角化病（通常是一种局限性角化异常疾病，但有间歇性泛发）与其他角化异常疾病之间似乎难以明确区分。
