Han Shu-Ping, Fu Lin-Shien, Chen Lu-Jen
Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan.
Department of Pediatrics, National Yang-Ming University, Taipei, Taiwan.
Int J Rheum Dis. 2019 Jan;22(1):121-131. doi: 10.1111/1756-185X.13407. Epub 2018 Nov 8.
Paraneoplastic pemphigus (PNP) is a mucocutaneous autoimmune disorder accompanied with a neoplasm. Castleman's disease (CD), although rare, is the most common cause of PNP in children. It can be life-threatening when pulmonary involvement occurs. Our study aimed to describe the features of PNP resulting from CD and to find clues for the early diagnosis in pediatric patients.
We report the case of a 13-year-old girl who initially presented with oral ulcers and lichen planus, with progression to respiratory failure. A literature review of PNP and CD in children between 1997 and 2016 was performed. The clinical manifestations, pathological findings, treatment, and outcome were analyzed.
Thirty-two children were included in our study: 16 boys and 16 girls. Intractable mucocutaneous lesions developed early before CD was diagnosed. The clinical manifestations comprised oral ulcers (100%), polymorphous skin rash (86.7%) and genital (62.5%) erosion. Histopathological findings revealed lymphoplasmacytic cells infiltration (92%), vacuolar interface change (72%), acantholysis (68%), and keratinocytes necrosis (36%). Thirty patients underwent tumor resection. These patients mainly had unicentric CD, with the hyaline-vascular variant dominant. Twenty-six patients (81.2%) exhibited pulmonary involvement. The mortality rate was 70.0%. Among them, 90.5% exhibited pulmonary involvement, and 81.0% died of respiratory failure.
Intractable mucocutaneous lesions with a concurrent tumor in children strongly indicate PNP resulting from CD. Because stomatitis or skin erosion may be the first presentation, mucocutaneous tissue biopsy and early detection of the underlying tumor are important. Earlier diagnosis is mandatory for the effective treatment of PNP and pulmonary involvement.
副肿瘤性天疱疮（PNP）是一种伴有肿瘤的皮肤黏膜自身免疫性疾病。Castleman病（CD）虽然罕见，但却是儿童PNP最常见的病因。当发生肺部受累时，它可能危及生命。我们的研究旨在描述由CD引起的PNP的特征，并寻找小儿患者早期诊断的线索。
我们报告了一名13岁女孩的病例，她最初表现为口腔溃疡和扁平苔藓，随后进展为呼吸衰竭。对1997年至2016年间儿童PNP和CD的文献进行了综述。分析了临床表现、病理结果、治疗方法及预后。
我们的研究纳入了32名儿童，16名男孩和16名女孩。在CD被诊断之前，顽固性皮肤黏膜病变就已早期出现。临床表现包括口腔溃疡（100%）、多形性皮疹（86.7%）和生殖器糜烂（62.5%）。组织病理学结果显示淋巴细胞和浆细胞浸润（92%）、空泡状界面改变（72%）、棘层松解（68%）和角质形成细胞坏死（36%）。30例患者接受了肿瘤切除术。这些患者主要为单中心CD，以透明血管型为主。26例患者（81.2%）出现肺部受累。死亡率为70.0%。其中，90.5%出现肺部受累，81.0%死于呼吸衰竭。
儿童出现顽固性皮肤黏膜病变并伴有肿瘤强烈提示为CD引起的PNP。由于口腔炎或皮肤糜烂可能是首发表现，因此皮肤黏膜组织活检及早期发现潜在肿瘤很重要。早期诊断对于有效治疗PNP及肺部受累至关重要。
