Department of Pathology and Laboratory Medicine, Weill Cornell Medicine, New York, NY; and.
Sanders Dermatology, New City, NY.
Am J Dermatopathol. 2024 Sep 1;46(9):605-610. doi: 10.1097/DAD.0000000000002765. Epub 2024 Jun 14.
Malignant atrophic papulosis/Köhlmeier-Degos disease was first described in 1941 by Köhlmeier in an anecdotal case report that described a young man who presented with extensive multiple intestinal perforations and a papular skin rash. Köhlmeier-Degos disease represents a unique vasculopathy targeting both the microvasculature and the arterial system. One of its most characteristic features is reflected by the discrete multifocal depressed porcelain lesions involving the skin and gastrointestinal tract. The pathological findings are striking and can be broadly categorized into those that are vascular in nature versus extravascular matrix production in the context of extensive extravascular hyaluronic acid and collagen deposition. A dynamic evolutionary morphology is observed not only clinically but also histologically. The microvascular alterations are particularly evident in the skin and are characterized by endothelial cell necrosis with subsequent endothelial cell detachment accompanied by intraluminal fibrin deposition, defining a thrombogenic microangiopathy that in later stage lesions is typically pauci-inflammatory. The arterial lesions are very distinctive and include significant neointimal proliferation with vascular luminal occlusion by amorphous plugs of collagen intimately admixed with platelets. Pathogenetically enhanced type I interferon signaling and endothelial cell injury mediated by the membranolytic attack complex (ie, C5b-9) are key in the evolution of the thrombotic microvascular and obliterative fibrosing arteriopathic changes. We describe a case of Köhlmeier-Degos disease that developed in the setting of tumor necrosis factor (TNF)-alpha inhibitor therapy with the drug golimumab. The clinical features, light microscopic findings, and a pathophysiologic paradigm based on the critical role of TNF-alpha in controlling the type I interferon response are discussed.
恶性萎缩性丘疹病/科赫梅勒-德戈斯病于 1941 年由科赫梅勒首次在一个轶事病例报告中描述,该报告描述了一名年轻男性,他表现为广泛的多发性肠穿孔和丘疹性皮疹。科赫梅勒-德戈斯病代表了一种针对微血管和动脉系统的独特血管病变。其最具特征性的特征之一是涉及皮肤和胃肠道的离散多灶性凹陷性瓷样病变。病理发现引人注目,可广泛分为血管性和血管外基质产生,在广泛的血管外透明质酸和胶原沉积的背景下。不仅在临床上,而且在组织学上都观察到动态进化形态。微血管改变在皮肤中尤为明显,其特征是内皮细胞坏死,随后内皮细胞脱落,伴有腔内纤维蛋白沉积,定义为血栓形成性微血管病,在晚期病变中通常炎症反应较少。动脉病变非常独特,包括显著的新生内膜增殖,血管腔被紧密混合血小板的胶原无定形栓子闭塞。增强的 I 型干扰素信号和膜溶解攻击复合物(即 C5b-9)介导的内皮细胞损伤在血栓性微血管和闭塞性纤维性动脉病变的演变中起关键作用。我们描述了一例在肿瘤坏死因子(TNF)-α 抑制剂治疗戈利木单抗药物治疗的情况下发生的科赫梅勒-德戈斯病。讨论了临床特征、光镜发现以及基于 TNF-α在控制 I 型干扰素反应中的关键作用的病理生理范例。