Multifocal lymphangioendotheliomatosis with thrombocytopenia in children: a systematic review and individual patient data analysis

This individual patient meta-analysis of 57 children with multifocal lymphangioendotheliomatosis with thrombocytopenia (MLT) from 34 studies establishes the condition’s characteristic clinical triad: universal cutaneous involvement (100%), near-universal thrombocytopenia (93%) and gastrointestinal bleeding (92%). We identified novel sex dimorphism, with boys showing significantly higher pulmonary involvement than girls (85% vs. 29%; P = 0.02) and defined a diagnostic immunophenotype (CD31+ CD34+ LYVE-1+ GLUT-1–) that distinguishes MLT from similar vascular anomalies. These findings provide clinicians with evidence-based diagnostic criteria and support emerging mTOR-targeted therapies for this rare, life-threatening paediatric vascular disorder.