Pediatric Surgery Department. La Paz University Hospital. Madrid (Spain).
Pathological Anatomy Department. La Paz University Hospital. Madrid (Spain).
Cir Pediatr. 2021 Apr 1;34(2):105-110.
Multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) is characterized by multiple maculopapular lesions involving the stomach and the lungs, associated with thrombocytopenia as a result of platelet entrapment. Episodes of severe digestive bleeding, which are sometimes unmanageable, are one of its most frequent presentations and a cause of mortality. Our objective was to describe the various phenotypes, as well as our treatment experience.
A retrospective analysis of patients diagnosed with MLT in our vascular abnormality unit from 2007 to 2018 was carried out. Epidemiological, clinical, and evolution data were analyzed, and a long-term follow-up was performed.
Five patients (3 boys and 2 girls) had congenital macules and erythematous papules of various sizes. They were later associated with episodes of severe hematemesis along with thrombocytopenia, which required blood product transfusion. The most frequently involved areas were the stomach and the colon. In two patients, multiple bilateral pulmonary nodules were noted. The anatomical pathology examination showed extended vessels with a prominent, hobnail endothelium, as well as intraluminal papillary projections in the dermis. Immunohistochemical analysis was CD-31 positive and CD-34 positive in a characteristic manner. Two patients were treated with mTOR inhibitors (rapamycin), with a progressive decrease in extracutaneous involvement and platelet recovery, but with a poor response in dermal lesions. Two patients were treated with vincristine, with a reduction of digestive bleeding episodes. No deaths were reported in our series.
MLT is characterized by hematological and cutaneous involvement - sometimes minimal -, with potential lesions in other internal organs. Its heterogeneous presentation, which may start with severe digestive bleeding, makes this rare pathology difficult to diagnose. mTOR inhibitors have opened up new treatment possibilities.
多灶性淋巴管内皮瘤伴血小板减少症（MLT）的特征是多发性斑丘疹病变累及胃和肺，并伴有血小板减少症，这是由于血小板被捕获所致。严重的消化性出血发作（有时难以控制）是其最常见的表现之一，也是导致死亡的原因之一。我们的目的是描述各种表型以及我们的治疗经验。
对 2007 年至 2018 年在我们的血管异常科诊断为 MLT 的患者进行回顾性分析。分析了流行病学、临床和演变数据，并进行了长期随访。
5 名患者（3 名男孩和 2 名女孩）有先天性斑疹和不同大小的红斑丘疹。随后，他们出现了严重的呕血发作，并伴有血小板减少症，需要输血。最常受累的部位是胃和结肠。两名患者还发现了多个双侧肺结节。解剖病理学检查显示扩展的血管，具有突出的钉突状内皮，以及真皮内的腔内乳头状突起。免疫组织化学分析显示 CD-31 阳性和 CD-34 阳性，具有特征性。两名患者接受了 mTOR 抑制剂（雷帕霉素）治疗，皮肤外受累和血小板恢复逐渐减少，但皮肤病变反应不佳。两名患者接受了长春新碱治疗，消化性出血发作减少。我们的系列研究中没有死亡报告。
MLT 的特征是血液学和皮肤受累 - 有时很轻微 - 伴有其他内部器官的潜在病变。其异质性表现可能以严重的消化性出血开始，这使得这种罕见的病理学难以诊断。mTOR 抑制剂为治疗提供了新的可能。
