Wieczorek Marta, Czernik Annette
Clinical Department of Dermatology, Central Clinical Hospital of the Ministry of the Interior and Administration, Warsaw, Poland.
Department of Dermatology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
Clin Cosmet Investig Dermatol. 2016 Sep 23;9:291-295. doi: 10.2147/CCID.S100802. eCollection 2016.
Paraneoplastic pemphigus (PNP) is a fatal autoimmune blistering disease associated with an underlying malignancy. It is a newly recognized blistering disease, which was first recognized in 1990 by Dr Anhalt who described an atypical pemphigus with associated neoplasia. In 2001, Nguyen proposed the term paraneoplastic autoimmune multiorgan syndrome because of the recognition that the condition affects multiple organ systems. PNP presents most frequently between 45 and 70 years old, but it also occurs in children and adolescents. A wide variety of lesions (florid oral mucosal lesions, a generalized polymorphous cutaneous eruption, and pulmonary involvement) may occur in patients with PNP. The earliest and most consistent finding is severe stomatitis. There is a spectrum of at least five clinical variants with different morphology. Similarly, the histological findings are very variable. Investigations to diagnose PNP should include checking for systemic complications (to identify tumor), skin biopsies (for histopathological and immunofluorescence studies), and serum immunological studies. PNP is characterized by the presence of autoantibodies against antigens such as desmoplakin I (250 kD), bullous pemphigoid aniygen I (230 kD), desmoplakin II (210 kD), envoplakin (210 kD), periplakin (190 kD), plectin (500 kD), and a 170 kD protein. Unlike other forms of pemphigus, PNP can affect other types of epithelia, such as gastrointestinal and respiratory tract. Treatment of PNP is difficult, and the best outcomes have been reported with benign neoplasms that have been surgically excised. The first-line treatment is high-dose corticosteroids with the addition of steroid-sparing agents. Treatment failures are often managed with rituximab with or without concomitant intravenous immunoglobulin. In general, the prognosis is poor, not only because of eventual progression of malignant tumors but also because treatment with aggressive immunosuppression therapy often results in infectious complications, which is unfortunately at this time the most common cause of death in PNP.
副肿瘤性天疱疮（PNP）是一种与潜在恶性肿瘤相关的致命性自身免疫性水疱病。它是一种新认识的水疱病，1990年由安哈尔特医生首次发现，他描述了一种伴有肿瘤形成的非典型天疱疮。2001年，阮提出了副肿瘤性自身免疫性多器官综合征这一术语，因为认识到该病症会影响多个器官系统。PNP最常出现在45至70岁之间，但也发生于儿童和青少年。PNP患者可能出现多种病变（严重的口腔黏膜病变、全身性多形性皮肤疹和肺部受累）。最早且最一致的表现是严重的口腔炎。存在至少五种具有不同形态的临床变异型。同样，组织学表现差异很大。诊断PNP的检查应包括检查全身并发症（以识别肿瘤）、皮肤活检（用于组织病理学和免疫荧光研究）以及血清免疫学研究。PNP的特征是存在针对诸如桥粒斑蛋白I（250kD）、大疱性类天疱疮抗原I（230kD）、桥粒斑蛋白II（210kD）、内披蛋白（210kD）、周膜蛋白（190kD）、网蛋白（500kD）和一种170kD蛋白等抗原的自身抗体。与其他类型的天疱疮不同，PNP可影响其他类型的上皮，如胃肠道和呼吸道。PNP的治疗困难，据报道手术切除良性肿瘤的效果最佳。一线治疗是大剂量皮质类固醇并加用免疫抑制剂。治疗失败通常用利妥昔单抗治疗，可联合或不联合静脉注射免疫球蛋白。一般来说，预后很差，这不仅是因为恶性肿瘤最终会进展，还因为积极的免疫抑制治疗往往会导致感染性并发症，不幸的是，此时感染性并发症是PNP最常见的死亡原因。
