Requena L, Manzarbeitia F, Moreno C, Izquierdo M J, Pastor M A, Carrasco L, Fariña M C, Martín L
Department of Dermatology, Fundación Jiménez Díaz, Universidad Autónoma, Madrid, Spain.
Am J Dermatopathol. 2001 Dec;23(6):514-20. doi: 10.1097/00000372-200112000-00003.
Olmsted syndrome is a rare disorder that consists of sharply marginated keratoderma of the palms and soles, constriction of digits and toes that may result in spontaneous amputation of the distal phalanges, hyperkeratotic plaques around the body orifices, onychodystrophy, and other less common cutaneous and extracutaneous anomalies. Although some patients had other affected family members, most cases of Olmsted syndrome seem to be of sporadic occurrence. We describe a patient with the characteristic features of Olmsted syndrome. The symptoms consisted of diffuse transgrediens palmoplantar keratoderma and keratotic plaques around the mouth and nose. Our patient also had the associated anomalies of hyperhidrosis of the palms and soles and congenital deaf-mutism. Histopathologic study of the keratoderma demonstrated epidermal hyperplasia with acanthosis, papillomatosis, and orthokeratotic hyperkeratosis. Immunohistochemical study showed more basal and suprabasal keratinocytes of the epidermis with immunoreactivity for Ki-67 marker when compared with the keratinocytes of the epidermis of the adjacent non-involved skin. These results support the notion that Olmsted syndrome is a hyperproliferative disorder of the epidermis.
奥姆斯特德综合征是一种罕见的疾病，其特征包括手掌和足底有边界清晰的角化病、手指和脚趾缩窄（可能导致远端指骨自发截肢）、身体孔口周围的角化性斑块、甲营养不良以及其他不太常见的皮肤和皮肤外异常。尽管有些患者有其他受影响的家庭成员，但大多数奥姆斯特德综合征病例似乎是散发性的。我们描述了一名具有奥姆斯特德综合征特征的患者。症状包括弥漫性移行性掌跖角化病以及口鼻周围的角化性斑块。我们的患者还伴有手掌和足底多汗以及先天性聋哑等相关异常。对角化病的组织病理学研究显示表皮增生伴棘层肥厚、乳头瘤样增生和正角化性过度角化。免疫组织化学研究表明，与相邻未受累皮肤的表皮角质形成细胞相比，该表皮的基底层和基底层上方角质形成细胞对Ki-67标记物有免疫反应性。这些结果支持奥姆斯特德综合征是一种表皮过度增殖性疾病的观点。
