Ceresetto José M, López Romina A, Humphreys Andrés R, Duboscq Cristina, Rabinovich Oscar M, Emery Nicholas C, Rausch Astrid, Zapata Tapia Luis, Dezanzo Pablo, Young Pablo
Servicio de Hematología y Hemoterapia, Hospital Británico de Buenos Aires, Argentina.
Servicio de Clínica Médica, Hospital Británico de Buenos Aires, Argentina.
Medicina (B Aires). 2023;83(6):1003-1006.
Plasminogen deficiency is a very rare multisystem entity that affects different tissues of the economy through the deposition of fibrin-rich pseudomembrane and determines a heterogeneous and diverse clinical presentation. It is transmitted in an autosomal recessive manner by mutations of the PLG gene on chromosome 6 and can be divided into hypoplasminogenemia or type I and dysplasminogenemia or type II, the latter not related to clinical pathology. Severe plasminogen deficiency has a prevalence of 1.6 individuals per million inhabitants and although it can be diagnosed in adulthood, the most severe symptoms are observed in infants and children. The most common form of onset is the so-called woody conjunctivitis, characterized by fibrin membranes that are deposited on the eyelids since childhood, causing exophytic lesions that affect vision. It can also affect other mucous membranes such as the gingival, respiratory, oropharyngeal, digestive and genital mucosa, among others. We present a rare case of severe plasminogen deficiency with conjunctivitis and woody cervicitis who was admitted with clinical acute abdominal symptoms, associated with a tumor mass due to pseudomembranous deposition in the ascending colon that simulated inflammatory bowel disease and resolved spontaneously.
纤溶酶原缺乏症是一种非常罕见的多系统疾病,通过富含纤维蛋白的假膜沉积影响机体不同组织,并导致异质性和多样化的临床表现。它以常染色体隐性方式由6号染色体上PLG基因的突变传递,可分为低纤溶酶原血症(I型)或异常纤溶酶原血症(II型),后者与临床病理无关。严重纤溶酶原缺乏症的患病率为每百万居民中有1.6人,虽然可在成年期诊断,但最严重的症状见于婴儿和儿童。最常见的发病形式是所谓的木样结膜炎,其特征是自儿童期起纤维蛋白膜沉积在眼睑上,导致影响视力的外生性病变。它也可影响其他黏膜,如牙龈、呼吸道、口咽、消化和生殖黏膜等。我们报告一例罕见的严重纤溶酶原缺乏症病例,该患者患有结膜炎和木样宫颈炎,因临床急性腹部症状入院,升结肠因假膜沉积出现肿瘤样肿块,类似炎症性肠病,后自发缓解。