Larrègue M, Callot V, Kanitakis J, Suau A M, Foret M
Department of Dermatology, Milétrie Hospital, Poitiers, France.
J Dermatol. 2000 Sep;27(9):557-68. doi: 10.1111/j.1346-8138.2000.tb02229.x.
Olmsted syndrome is a rare keratinization disorder; 18 cases have been published so far. It associates a mutilating cogenital palmoplantar keratoderma with periorificial erythematokeratotic lesions. We report herein two new unrelated male children with Olmsted syndrome (OS), one of whom was studied by light and electron microscopy. Our histological, immunohistochemical, and ultrastructural findings suggest that this disease is related to epidermal hyperproliferation. We present herein a review of the twenty cases published so far and discuss the major clinicopathological and genetic features of this disease.
奥姆斯特德综合征是一种罕见的角化障碍疾病；迄今为止已发表了18例病例报告。它伴有致残性先天性掌跖角化病和口周红斑角化性皮损。我们在此报告两例新的无血缘关系的患有奥姆斯特德综合征（OS）的男性儿童，其中一名患儿接受了光镜和电镜检查。我们的组织学、免疫组化和超微结构研究结果表明，该疾病与表皮细胞过度增殖有关。我们在此对迄今为止已发表的20例病例进行综述，并讨论该疾病的主要临床病理和遗传学特征。
